#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
MAPK6	5597	genome.wustl.edu	37	15	52356868	52356868	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:52356868G>A	ENST00000261845.5	+	6	2644	c.1837G>A	c.(1837-1839)Gta>Ata	p.V613I	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	613					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GTTTTGTGAGGTAAGGAAGGA	0.418																																																	0								ENSG00000069956						83.0	81.0	82.0					15																	52356868		2195	4293	6488	MAPK6	SO:0001583	missense	0			-	HGNC	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1837G>A	15.37:g.52356868G>A	ENSP00000261845:p.Val613Ile	Somatic	0	86	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	35	25.53	B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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,prints_MAPK_ERK3/4	p.V613I	ENST00000261845.5	37	c.1837	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	G	10.02	1.235797	0.22626	.	.	ENSG00000069956	ENST00000261845	T	0.71222	-0.55	5.27	5.27	0.74061	.	0.166042	0.53938	D	0.000053	T	0.60612	0.2282	N	0.24115	0.695	0.46356	D	0.999003	B	0.06786	0.001	B	0.06405	0.002	T	0.54833	-0.8234	10	0.40728	T	0.16	-13.8859	19.0679	0.93119	0.0:0.0:1.0:0.0	.	613	Q16659	MK06_HUMAN	I	613	ENSP00000261845:V613I	ENSP00000261845:V613I	V	+	1	0	MAPK6	50144160	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.669000	0.68081	2.537000	0.85549	0.543000	0.68304	GTA	-	NULL		0.418	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	protein_coding	OTTHUMT00000254841.2	G	NM_002748	-		52356868	+1	no_errors	ENST00000261845	ensembl	human	known	74_37	missense	SNP	1.000	A
MBTD1	54799	genome.wustl.edu	37	17	49279025	49279025	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:49279025G>A	ENST00000586178.1	-	12	1495	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	MBTD1_ENST00000376381.2_Silent_p.F384F|MBTD1_ENST00000415868.1_Silent_p.F384F	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	384					chromatin modification (GO:0016568)|embryonic skeletal system development (GO:0048706)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			TTCCTTCCTTGAACCATTCCC	0.299																																																	0								ENSG00000011258						164.0	172.0	169.0					17																	49279025		2203	4297	6500	MBTD1	SO:0001819	synonymous_variant	0			-	HGNC	AK000062	CCDS11581.2	17q24.1	2003-01-15			ENSG00000011258	ENSG00000011258			19866	protein-coding gene	gene with protein product							Standard	NM_017643		Approved	SA49P01, FLJ20055	uc002itr.4	Q05BQ5	OTTHUMG00000150442	ENST00000586178.1:c.1152C>T	17.37:g.49279025G>A		Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	Q6ZVU7|Q9NXU1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.F384	ENST00000586178.1	37	c.1152	CCDS11581.2	17																																																																																			-	smart_Mbt,pfscan_Mbt		0.299	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	protein_coding	OTTHUMT00000318124.1	G		-		49279025	-1	no_errors	ENST00000415868	ensembl	human	known	74_37	silent	SNP	1.000	A
MYH14	79784	genome.wustl.edu	37	19	50795622	50795622	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50795622G>A	ENST00000596571.1	+	34	5109	c.5109G>A	c.(5107-5109)gaG>gaA	p.E1703E	MYH14_ENST00000376970.2_Silent_p.E1736E|MYH14_ENST00000598205.1_Silent_p.E1711E|MYH14_ENST00000601313.1_Silent_p.E1744E|MYH14_ENST00000262269.8_Silent_p.E1744E|MYH14_ENST00000425460.1_Silent_p.E1711E|MYH14_ENST00000440075.2_Silent_p.E1744E			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1703					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGGCCTGGAGGCTGAGGTGC	0.627																																																	0								ENSG00000105357						13.0	16.0	15.0					19																	50795622		2008	4195	6203	MYH14	SO:0001819	synonymous_variant	0			-	HGNC	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5109G>A	19.37:g.50795622G>A		Somatic	0	217	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	78	22.00	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1744	ENST00000596571.1	37	c.5232	CCDS59411.1	19																																																																																			-	pfam_Myosin_tail		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	protein_coding	OTTHUMT00000464710.2	G	NM_024729	-		50795622	+1	no_errors	ENST00000262269	ensembl	human	known	74_37	silent	SNP	1.000	A
PSMF1	9491	genome.wustl.edu	37	20	1115795	1115795	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:1115795C>T	ENST00000335877.6	+	4	573	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	PSMF1_ENST00000484891.1_3'UTR|PSMF1_ENST00000381898.4_Missense_Mutation_p.R45C|PSMF1_ENST00000333082.3_Missense_Mutation_p.R133C|PSMF1_ENST00000246015.4_Missense_Mutation_p.R133C|PSMF1_ENST00000438768.2_Intron	NM_006814.3	NP_006805.2	Q92530	PSMF1_HUMAN	proteasome (prosome, macropain) inhibitor subunit 1 (PI31)	133	Important for homodimerization and interaction with FBXO7.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteasomal protein catabolic process (GO:1901799)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome core complex (GO:0005839)	endopeptidase inhibitor activity (GO:0004866)|proteasome binding (GO:0070628)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)	13						GCTTCGGTCTCGTATTGTGTC	0.532																																																	0								ENSG00000125818						123.0	107.0	113.0					20																	1115795		2203	4300	6503	PSMF1	SO:0001583	missense	0			-	HGNC	D88378	CCDS13010.1	20p13	2008-07-02			ENSG00000125818	ENSG00000125818		"""Proteasome (prosome, macropain) subunits"""	9571	protein-coding gene	gene with protein product	"""proteasome inhibitor hP131 subunit"""					10363639	Standard	NM_006814		Approved	PI31	uc002wen.4	Q92530	OTTHUMG00000031656	ENST00000335877.6:c.397C>T	20.37:g.1115795C>T	ENSP00000338039:p.Arg133Cys	Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	A0AVQ9|D3DVW3|Q9H4I1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FP_dom,pfam_PI31_Prot_Reg	p.R133C	ENST00000335877.6	37	c.397	CCDS13010.1	20	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728018	0.69074	.	.	ENSG00000125818	ENST00000333082;ENST00000381898;ENST00000381899;ENST00000454500;ENST00000246015;ENST00000335877	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.22	4.23	0.50019	.	0.118042	0.53938	D	0.000057	T	0.53302	0.1788	L	0.54323	1.7	0.43476	D	0.99569	D;D;D;D	0.71674	0.994;0.997;0.998;0.997	P;P;P;P	0.60345	0.707;0.873;0.646;0.646	T	0.52830	-0.8523	10	0.54805	T	0.06	-2.4416	12.5644	0.56301	0.1653:0.8346:0.0:0.0	.	45;45;133;133	F5H4Z3;B4DUJ0;Q5QPM7;Q92530	.;.;.;PSMF1_HUMAN	C	133;45;133;45;133;133	ENSP00000327704:R133C;ENSP00000371323:R45C;ENSP00000371324:R133C;ENSP00000246015:R133C;ENSP00000338039:R133C	ENSP00000246015:R133C	R	+	1	0	PSMF1	1063795	0.981000	0.34729	0.985000	0.45067	0.996000	0.88848	1.234000	0.32660	2.712000	0.92718	0.650000	0.86243	CGT	-	pfam_FP_dom		0.532	PSMF1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMF1	protein_coding	OTTHUMT00000077504.2	C	NM_178578	-		1115795	+1	no_errors	ENST00000333082	ensembl	human	known	74_37	missense	SNP	0.961	T
BMP15	9210	genome.wustl.edu	37	X	50659392	50659392	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:50659392G>A	ENST00000252677.3	+	2	964	c.964G>A	c.(964-966)Gga>Aga	p.G322R		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	322					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CTACTGTAAAGGAACTTGTCT	0.517																																																	0								ENSG00000130385						160.0	136.0	144.0					X																	50659392		2203	4299	6502	BMP15	SO:0001583	missense	0			-	HGNC	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.964G>A	X.37:g.50659392G>A	ENSP00000252677:p.Gly322Arg	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q17RM6|Q5JST1|Q9UMS1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu	p.G322R	ENST00000252677.3	37	c.964	CCDS14334.1	X	.	.	.	.	.	.	.	.	.	.	g	15.10	2.732636	0.48939	.	.	ENSG00000130385	ENST00000252677	D	0.98937	-5.25	5.58	4.7	0.59300	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.049115	0.85682	N	0.000000	D	0.99480	0.9815	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98052	1.0388	10	0.87932	D	0	.	13.0923	0.59172	0.0:0.1583:0.8417:0.0	.	322	O95972	BMP15_HUMAN	R	322	ENSP00000252677:G322R	ENSP00000252677:G322R	G	+	1	0	BMP15	50676132	1.000000	0.71417	0.398000	0.26321	0.089000	0.18198	7.812000	0.86109	1.104000	0.41587	0.594000	0.82650	GGA	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu		0.517	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP15	protein_coding	OTTHUMT00000056572.1	G	NM_005448	-		50659392	+1	no_errors	ENST00000252677	ensembl	human	known	74_37	missense	SNP	1.000	A
NIFK	84365	genome.wustl.edu	37	2	122488477	122488477	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:122488477G>A	ENST00000285814.4	-	4	628	c.556C>T	c.(556-558)Cct>Tct	p.P186S	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		186					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						ACCAAAGAAGGAAAATCATAG	0.393																																																	0								ENSG00000155438						112.0	113.0	113.0					2																	122488477		2203	4299	6502	MKI67IP	SO:0001583	missense	0			-	HGNC																												ENST00000285814.4:c.556C>T	2.37:g.122488477G>A	ENSP00000285814:p.Pro186Ser	Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	A8K788|Q8TB66|Q96ED4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_hNIFK_FHA_Ki67_binding,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P186S	ENST00000285814.4	37	c.556	CCDS2135.1	2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.708078	0.48412	.	.	ENSG00000155438	ENST00000285814;ENST00000409201;ENST00000423105;ENST00000447132;ENST00000451734	T;T;T	0.48836	2.28;0.8;1.45	5.65	4.77	0.60923	.	0.100420	0.64402	N	0.000001	T	0.59046	0.2165	M	0.64567	1.98	0.51482	D	0.99992	D;P	0.65815	0.995;0.802	P;B	0.59761	0.863;0.236	T	0.59915	-0.7364	10	0.48119	T	0.1	-10.8813	10.4288	0.44395	0.0895:0.0:0.9105:0.0	.	186;186	B4DSM4;Q9BYG3	.;MK67I_HUMAN	S	186;186;15;81;154	ENSP00000285814:P186S;ENSP00000406227:P81S;ENSP00000398116:P154S	ENSP00000285814:P186S	P	-	1	0	MKI67IP	122204947	1.000000	0.71417	0.751000	0.31187	0.105000	0.19272	5.687000	0.68219	1.383000	0.46405	0.655000	0.94253	CCT	-	NULL		0.393	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKI67IP	protein_coding	OTTHUMT00000254239.2	G		-		122488477	-1	no_errors	ENST00000285814	ensembl	human	known	74_37	missense	SNP	1.000	A
VOPP1	81552	genome.wustl.edu	37	7	55540609	55540609	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:55540609G>A	ENST00000285279.5	-	5	658	c.458C>T	c.(457-459)cCc>cTc	p.P153L	VOPP1_ENST00000428648.1_Missense_Mutation_p.P86L|VOPP1_ENST00000427700.1_Missense_Mutation_p.P151L|VOPP1_ENST00000454227.1_Missense_Mutation_p.P90L|VOPP1_ENST00000418904.1_Missense_Mutation_p.P136L|VOPP1_ENST00000433959.1_Missense_Mutation_p.P144L|VOPP1_ENST00000428097.1_Missense_Mutation_p.P86L|VOPP1_ENST00000545390.1_Missense_Mutation_p.P150L|VOPP1_ENST00000453256.1_Missense_Mutation_p.P86L	NM_001284282.1|NM_030796.3	NP_001271211.1|NP_110423.3	Q96AW1	VOPP1_HUMAN	vesicular, overexpressed in cancer, prosurvival protein 1	153	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|integral component of organelle membrane (GO:0031301)	signal transducer activity (GO:0004871)			endometrium(1)|lung(4)	5						GGCTGGAGGGGGCGGGCAGGC	0.647																																																	0								ENSG00000154978						7.0	9.0	8.0					7																	55540609		1758	3978	5736	VOPP1	SO:0001583	missense	0			-	HGNC		CCDS47588.1, CCDS64654.1, CCDS64656.1	7p11.2	2010-06-22			ENSG00000154978	ENSG00000154978			34518	protein-coding gene	gene with protein product	"""Glioblastoma-amplified secreted protein"", ""EGFR-coamplified and overexpressed protein"""	611915				15735698	Standard	NM_030796		Approved	ECop, GASP, FLJ20532, DKFZp564K0822	uc003tqs.3	Q96AW1	OTTHUMG00000156124	ENST00000285279.5:c.458C>T	7.37:g.55540609G>A	ENSP00000285279:p.Pro153Leu	Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	B0AZU1|B2RAT4|B3KS72|C9JWR3|Q6FIE3|Q8NBN8|Q96RE5|Q9H0W4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P153L	ENST00000285279.5	37	c.458	CCDS47588.1	7	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869024	0.72065	.	.	ENSG00000154978	ENST00000285279;ENST00000428648;ENST00000433959;ENST00000545390;ENST00000428097;ENST00000418904;ENST00000454227;ENST00000453256;ENST00000427700;ENST00000455023	.	.	.	5.48	4.59	0.56863	.	.	.	.	.	T	0.63943	0.2554	L	0.32530	0.975	0.58432	D	0.999993	D;D;D;D	0.65815	0.982;0.995;0.995;0.982	P;D;D;P	0.63877	0.745;0.919;0.919;0.802	T	0.67511	-0.5652	8	0.87932	D	0	-8.9086	13.4463	0.61142	0.0:0.0:0.842:0.158	.	136;150;153;144	C9JWR3;B0AZU1;Q96AW1;B3KS72	.;.;VOPP1_HUMAN;.	L	153;86;144;150;86;136;90;86;151;86	.	ENSP00000285279:P153L	P	-	2	0	VOPP1	55508103	1.000000	0.71417	0.439000	0.26833	0.727000	0.41649	5.137000	0.64789	1.280000	0.44463	0.650000	0.86243	CCC	-	NULL		0.647	VOPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VOPP1	protein_coding	OTTHUMT00000343074.1	G	NM_030796	-		55540609	-1	no_errors	ENST00000285279	ensembl	human	known	74_37	missense	SNP	0.956	A
ABCG2	9429	genome.wustl.edu	37	4	89034698	89034698	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:89034698C>T	ENST00000237612.3	-	9	1496	c.951G>A	c.(949-951)gaG>gaA	p.E317E	ABCG2_ENST00000515655.1_Silent_p.E317E	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	317					cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	GCTCTATGATCTCTGTGGCTT	0.383																																																	0								ENSG00000118777						83.0	83.0	83.0					4																	89034698		2203	4300	6503	ABCG2	SO:0001819	synonymous_variant	0			-	HGNC	AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.951G>A	4.37:g.89034698C>T		Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E317	ENST00000237612.3	37	c.951	CCDS3628.1	4																																																																																			-	NULL		0.383	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	protein_coding	OTTHUMT00000253051.1	C	NM_004827	-		89034698	-1	no_errors	ENST00000237612	ensembl	human	known	74_37	silent	SNP	0.000	T
AGRN	375790	genome.wustl.edu	37	1	990457	990457	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:990457G>A	ENST00000379370.2	+	0	6284				RP11-54O7.14_ENST00000418300.1_RNA	NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin						axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTTGGCCGGAGGGACTGCTGG	0.582																																																	0								ENSG00000242590																																			RP11-54O7.14	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene	XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.*96G>A	1.37:g.990457G>A		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	11	54.17	Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000379370.2	37	NULL	CCDS30551.1	1																																																																																			-	-		0.582	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000242590	protein_coding	OTTHUMT00000097990.2	G	NM_198576	-		990457	+1	no_errors	ENST00000418300	ensembl	human	known	74_37	rna	SNP	0.963	A
ADAMTS17	170691	genome.wustl.edu	37	15	100801831	100801831	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:100801831G>A	ENST00000268070.4	-	6	989	c.884C>T	c.(883-885)tCc>tTc	p.S295F	ADAMTS17_ENST00000559976.1_5'Flank	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	295	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GTGCCCAATGGACAACTTAGC	0.527																																																	0								ENSG00000140470						45.0	37.0	40.0					15																	100801831		2203	4300	6503	ADAMTS17	SO:0001583	missense	0			-	HGNC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.884C>T	15.37:g.100801831G>A	ENSP00000268070:p.Ser295Phe	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	15.22	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S295F	ENST00000268070.4	37	c.884	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	7.865	0.726858	0.15439	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.87729	-2.29	5.51	4.6	0.57074	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (1);	0.163931	0.44285	D	0.000474	T	0.77089	0.4079	L	0.27053	0.805	0.48571	D	0.99967	B;P	0.35383	0.008;0.498	B;B	0.30316	0.007;0.114	T	0.73920	-0.3830	10	0.10111	T	0.7	.	15.8467	0.78899	0.0:0.0:0.8633:0.1367	.	52;295	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	F	295;52	ENSP00000268070:S295F	ENSP00000268070:S295F	S	-	2	0	ADAMTS17	98619354	1.000000	0.71417	1.000000	0.80357	0.393000	0.30537	5.076000	0.64413	1.317000	0.45149	-0.152000	0.13540	TCC	-	pfscan_Peptidase_M12B		0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	G	NM_139057	-		100801831	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	missense	SNP	1.000	A
MBD5	55777	genome.wustl.edu	37	2	149243394	149243394	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:149243394C>T	ENST00000407073.1	+	11	3926	c.2929C>T	c.(2929-2931)Cct>Tct	p.P977S	MBD5_ENST00000404807.1_Missense_Mutation_p.P1210S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	977					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAGATGTTTCCTCCAAATCA	0.423																																																	0								ENSG00000204406						92.0	87.0	89.0					2																	149243394		2203	4300	6503	MBD5	SO:0001583	missense	0			-	HGNC	AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.2929C>T	2.37:g.149243394C>T	ENSP00000386049:p.Pro977Ser	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom	p.P977S	ENST00000407073.1	37	c.2929	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255768	0.80135	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.17054	2.3;2.3	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000011	T	0.32496	0.0831	L	0.27053	0.805	0.45554	D	0.998501	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.08617	-1.0713	10	0.87932	D	0	-6.7661	19.3258	0.94261	0.0:1.0:0.0:0.0	.	1210;977	E9PHH0;Q9P267	.;MBD5_HUMAN	S	977;1210	ENSP00000386049:P977S;ENSP00000384672:P1210S	ENSP00000384672:P1210S	P	+	1	0	MBD5	148959864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.036000	0.70948	2.579000	0.87056	0.591000	0.81541	CCT	-	NULL		0.423	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	protein_coding	OTTHUMT00000318111.2	C		-		149243394	+1	no_errors	ENST00000407073	ensembl	human	known	74_37	missense	SNP	1.000	T
CCDC37	348807	genome.wustl.edu	37	3	126142403	126142403	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:126142403A>G	ENST00000352312.1	+	13	1301	c.1202A>G	c.(1201-1203)aAc>aGc	p.N401S	CCDC37_ENST00000505024.1_Missense_Mutation_p.N402S|CCDC37_ENST00000393425.1_Missense_Mutation_p.N402S	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	401										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GAGGAGCAGAACCTGTCGCTG	0.587																																																	0								ENSG00000163885						87.0	75.0	79.0					3																	126142403		2203	4300	6503	CCDC37	SO:0001583	missense	0			-	HGNC	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1202A>G	3.37:g.126142403A>G	ENSP00000344749:p.Asn401Ser	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	39	22.00	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_SuperAg_toxin_C	p.N402S	ENST00000352312.1	37	c.1205	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	A	22.2	4.252284	0.80135	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.51325	0.71;0.71;0.71	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.72070	0.3415	M	0.88640	2.97	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	T	0.77892	-0.2418	10	0.72032	D	0.01	-46.2748	12.5537	0.56242	1.0:0.0:0.0:0.0	.	402;401	Q494V2-2;Q494V2	.;CCD37_HUMAN	S	401;402;402	ENSP00000344749:N401S;ENSP00000377076:N402S;ENSP00000423046:N402S	ENSP00000344749:N401S	N	+	2	0	CCDC37	127625093	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.239000	0.89811	1.853000	0.53794	0.402000	0.26972	AAC	-	NULL		0.587	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	protein_coding	OTTHUMT00000370099.4	A	NM_182628	-		126142403	+1	no_errors	ENST00000393425	ensembl	human	known	74_37	missense	SNP	1.000	G
PNLIPRP1	5407	genome.wustl.edu	37	10	118351374	118351374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:118351374G>A	ENST00000528052.1	+	3	212	c.141G>A	c.(139-141)tgG>tgA	p.W47*	PNLIPRP1_ENST00000358834.4_Nonsense_Mutation_p.W47*|PNLIPRP1_ENST00000442761.1_Nonsense_Mutation_p.W47*|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Nonsense_Mutation_p.W47*			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	47					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TTCTCCCCTGGAGCCCTGAGA	0.507																																																	0								ENSG00000187021						113.0	118.0	116.0					10																	118351374		2203	4300	6503	PNLIPRP1	SO:0001587	stop_gained	0			-	HGNC	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.141G>A	10.37:g.118351374G>A	ENSP00000433933:p.Trp47*	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	Q68D83|Q68DR6|Q8TAU2|Q9BS82	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_panc,prints_Lipase	p.W47*	ENST00000528052.1	37	c.141	CCDS7595.1	10	.	.	.	.	.	.	.	.	.	.	G	14.04	2.418080	0.42918	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	.	.	.	5.51	5.51	0.81932	.	0.173927	0.41938	D	0.000796	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.6318	8.0564	0.30608	0.0841:0.1618:0.754:0.0	.	.	.	.	X	47	.	ENSP00000351695:W47X	W	+	3	0	PNLIPRP1	118341364	0.999000	0.42202	1.000000	0.80357	0.964000	0.63967	2.242000	0.43106	2.593000	0.87608	0.655000	0.94253	TGG	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc		0.507	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PNLIPRP1	protein_coding	OTTHUMT00000384633.1	G	NM_006229	-		118351374	+1	no_errors	ENST00000358834	ensembl	human	known	74_37	nonsense	SNP	1.000	A
OTUD7B	56957	genome.wustl.edu	37	1	149939398	149939398	+	Missense_Mutation	SNP	G	G	A	rs202229859		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:149939398G>A	ENST00000369135.4	-	4	617	c.323C>T	c.(322-324)tCc>tTc	p.S108F	OTUD7B_ENST00000479905.1_Intron	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	108					mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCGGGCCAGGGAAACAATGCT	0.562																																																	0								ENSG00000163113						56.0	61.0	60.0					1																	149939398		1957	4151	6108	OTUD7B	SO:0001583	missense	0			-	HGNC	AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.323C>T	1.37:g.149939398G>A	ENSP00000358131:p.Ser108Phe	Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.S108F	ENST00000369135.4	37	c.323	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710314	0.89018	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.36520	1.25;1.34	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.50398	-0.8833	9	.	.	.	.	17.7703	0.88490	0.0:0.0:1.0:0.0	.	108	Q6GQQ9	OTU7B_HUMAN	F	108	ENSP00000358131:S108F;ENSP00000408231:S108F	.	S	-	2	0	OTUD7B	148206022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.672000	0.90937	0.557000	0.71058	TCC	-	NULL		0.562	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	protein_coding	OTTHUMT00000034146.3	G	NM_020205	-		149939398	-1	no_errors	ENST00000369135	ensembl	human	known	74_37	missense	SNP	1.000	A
KSR2	283455	genome.wustl.edu	37	12	117977684	117977684	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:117977684G>A	ENST00000339824.5	-	10	2254	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	KSR2_ENST00000425217.1_Silent_p.I480I|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000302438.5_Silent_p.I206I			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	509					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGGGACAGGGATGTGGTCCT	0.647																																																	0								ENSG00000171435						88.0	107.0	101.0					12																	117977684		2161	4265	6426	KSR2	SO:0001819	synonymous_variant	0			-	HGNC	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1527C>T	12.37:g.117977684G>A		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	A0PJT2|Q3B828|Q8N775	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.I509	ENST00000339824.5	37	c.1527		12																																																																																			-	NULL		0.647	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	protein_coding	OTTHUMT00000401987.2	G	NM_173598	-		117977684	-1	no_errors	ENST00000339824	ensembl	human	known	74_37	silent	SNP	1.000	A
SIRT2	22933	genome.wustl.edu	37	19	39371791	39371791	+	Silent	SNP	G	G	A	rs143663529	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:39371791G>A	ENST00000249396.7	-	11	997	c.696C>T	c.(694-696)atC>atT	p.I232I	SIRT2_ENST00000392081.2_Silent_p.I195I|SIRT2_ENST00000358931.5_Silent_p.I232I|RINL_ENST00000591812.1_5'Flank|RINL_ENST00000340740.3_5'Flank	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	232	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CAAAAAAGACGATATCTGAGG	0.607													G|||	2	0.000399361	0.0	0.0	5008	,	,		15796	0.0		0.0	False		,,,				2504	0.002																0								ENSG00000068903	G	,,	0,4406		0,0,2203	81.0	72.0	75.0		585,696,585	-0.2	0.4	19	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SIRT2	NM_001193286.1,NM_012237.3,NM_030593.2	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	195/235,232/390,195/353	39371791	2,13004	2203	4300	6503	SIRT2	SO:0001819	synonymous_variant	0			-	HGNC	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.696C>T	19.37:g.39371791G>A		Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom	p.I232	ENST00000249396.7	37	c.696	CCDS12523.1	19																																																																																			-	pfam_Sirtuin,pirsf_NAD-dep_deAcase_SIR2_class_I,pfscan_Ssirtuin_cat_dom		0.607	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIRT2	protein_coding	OTTHUMT00000318278.1	G		rs143663529		39371791	-1	no_errors	ENST00000249396	ensembl	human	known	74_37	silent	SNP	0.987	A
KIR3DL1	3811	genome.wustl.edu	37	19	55281320	55281320	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:55281320C>T	ENST00000538269.1	+	1	61				KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000336077.6_Silent_p.V6V|KIR2DL1_ENST00000291633.7_Silent_p.V6V|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTTGGTCGTCAGCATGGCGT	0.612											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0								ENSG00000125498						120.0	104.0	109.0					19																	55281320		2157	4193	6350	KIR2DL1	SO:0001627	intron_variant	0			-	HGNC	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.34+45285C>T	19.37:g.55281320C>T		Somatic	0	139	0.00	1006	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	74	25.25	O43473|Q14946|Q16541	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Immunoglobulin,smart_Ig_sub	p.V6	ENST00000538269.1	37	c.18		19																																																																																			-	NULL		0.612	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	KIR2DL1	protein_coding		C	NM_013289	-		55281320	+1	no_errors	ENST00000336077	ensembl	human	known	74_37	silent	SNP	0.925	T
GULP1	51454	genome.wustl.edu	37	2	189434016	189434016	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:189434016G>A	ENST00000409580.1	+	9	1164	c.450G>A	c.(448-450)agG>agA	p.R150R	GULP1_ENST00000409830.1_Silent_p.R150R|GULP1_ENST00000409843.1_Silent_p.R150R|GULP1_ENST00000409805.1_Silent_p.R47R|GULP1_ENST00000409609.1_Silent_p.R150R|GULP1_ENST00000359135.3_Silent_p.R150R			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	150	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			TGGCATACAGGAAATTTCTAG	0.338																																					Pancreas(178;563 2065 20199 42378 52815)												0								ENSG00000144366						93.0	93.0	93.0					2																	189434016		2203	4300	6503	GULP1	SO:0001819	synonymous_variant	0			-	HGNC	AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.450G>A	2.37:g.189434016G>A		Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pfscan_PTB/PI_dom	p.R150	ENST00000409580.1	37	c.450	CCDS2295.1	2																																																																																			-	pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom		0.338	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	protein_coding	OTTHUMT00000335722.1	G	NM_016315	-		189434016	+1	no_errors	ENST00000359135	ensembl	human	known	74_37	silent	SNP	1.000	A
C5orf34	375444	genome.wustl.edu	37	5	43492369	43492369	+	Missense_Mutation	SNP	G	G	A	rs199593005		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:43492369G>A	ENST00000306862.2	-	10	1903	c.1528C>T	c.(1528-1530)Cct>Tct	p.P510S	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	510										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TGTCCATCAGGAAAAGTTAAC	0.284																																																	0								ENSG00000172244						91.0	88.0	89.0					5																	43492369		2203	4291	6494	C5orf34	SO:0001583	missense	0			-	HGNC	AK056925	CCDS3946.1	5p12	2012-02-23			ENSG00000172244	ENSG00000172244			24738	protein-coding gene	gene with protein product						12477932	Standard	XM_006714473		Approved	FLJ32363	uc003jnz.2	Q96MH7	OTTHUMG00000131151	ENST00000306862.2:c.1528C>T	5.37:g.43492369G>A	ENSP00000303490:p.Pro510Ser	Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	39	35.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P510S	ENST00000306862.2	37	c.1528	CCDS3946.1	5	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435311	0.83885	.	.	ENSG00000172244	ENST00000306862	T	0.71579	-0.58	5.84	5.84	0.93424	.	0.128747	0.52532	D	0.000061	D	0.84047	0.5386	M	0.75447	2.3	0.51767	D	0.999934	D	0.89917	1.0	D	0.97110	1.0	T	0.82944	-0.0206	10	0.42905	T	0.14	-20.0559	17.9336	0.89006	0.0:0.0:1.0:0.0	.	510	Q96MH7	CE034_HUMAN	S	510	ENSP00000303490:P510S	ENSP00000303490:P510S	P	-	1	0	C5orf34	43528126	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.662000	0.68032	2.748000	0.94277	0.650000	0.86243	CCT	-	NULL		0.284	C5orf34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf34	protein_coding	OTTHUMT00000253843.1	G	NM_198566	rs199593005		43492369	-1	no_errors	ENST00000306862	ensembl	human	known	74_37	missense	SNP	1.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79438526	79438526	+	Intron	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:79438526A>T	ENST00000376718.3	-	6	880				PRUNE2_ENST00000376713.3_Intron|PRUNE2_ENST00000428286.1_Intron	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AATCAATGCTAAAAAAGCATT	0.398																																																	0								ENSG00000106772						182.0	148.0	160.0					9																	79438526		2203	4300	6503	PRUNE2	SO:0001627	intron_variant	0			-	HGNC	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.756+21T>A	9.37:g.79438526A>T		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000376718.3	37	NULL	CCDS47982.1	9																																																																																			-	-		0.398	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	A	NM_138818	-		79438526	-1	no_errors	ENST00000492157	ensembl	human	known	74_37	rna	SNP	0.000	T
DUOX1	53905	genome.wustl.edu	37	15	45427811	45427811	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:45427811C>T	ENST00000321429.4	+	7	1042	c.635C>T	c.(634-636)cCc>cTc	p.P212L	DUOX1_ENST00000389037.3_Missense_Mutation_p.P212L	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	212	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCGCAGAACCCCCTGCTCATG	0.736																																																	0								ENSG00000137857						5.0	5.0	5.0					15																	45427811		2016	4004	6020	DUOX1	SO:0001583	missense	0			-	HGNC	AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.635C>T	15.37:g.45427811C>T	ENSP00000317997:p.Pro212Leu	Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal	p.P212L	ENST00000321429.4	37	c.635	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	.	8.507	0.865700	0.17250	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	T;T	0.69926	-0.44;-0.44	3.91	2.99	0.34606	.	0.938464	0.09063	N	0.853961	T	0.60971	0.2310	N	0.25890	0.77	0.09310	N	1	B	0.23316	0.083	B	0.36186	0.219	T	0.54077	-0.8347	10	0.29301	T	0.29	-3.692	13.5815	0.61905	0.1582:0.8418:0.0:0.0	.	212	Q9NRD9	DUOX1_HUMAN	L	212	ENSP00000317997:P212L;ENSP00000373689:P212L	ENSP00000317997:P212L	P	+	2	0	DUOX1	43215103	0.000000	0.05858	0.003000	0.11579	0.000000	0.00434	0.276000	0.18716	0.417000	0.25871	-2.157000	0.00329	CCC	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.736	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	protein_coding	OTTHUMT00000416251.1	C	NM_017434	-		45427811	+1	no_errors	ENST00000321429	ensembl	human	known	74_37	missense	SNP	0.000	T
LOC645752	645752	genome.wustl.edu	37	15	78213716	78213716	+	lincRNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:78213716G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							ACAGCACAGAGAGCCCGCTCC	0.577																																																	0								ENSG00000260776																																			RP11-114H24.2			0			-	Clone_based_vega_gene																													15.37:g.78213716G>A		Somatic	0	196	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	65	24.14		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000565869.1	37	NULL		15																																																																																			-	-		0.577	RP11-114H24.7-001	KNOWN	basic	lincRNA	LOC645752	lincRNA	OTTHUMT00000421587.1	G		-		78213716	-1	no_errors	ENST00000567226	ensembl	human	known	74_37	rna	SNP	0.947	A
SPAG6	9576	genome.wustl.edu	37	10	22680840	22680840	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:22680840C>T	ENST00000376624.3	+	8	1330	c.1188C>T	c.(1186-1188)ctC>ctT	p.L396L	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Silent_p.L371L|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Silent_p.L157L|SPAG6_ENST00000376603.2_Silent_p.L472L|SPAG6_ENST00000313311.6_Silent_p.L396L	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	396					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						CTGAGGATCTCCAAGTAAAAG	0.358																																																	0								ENSG00000077327						66.0	63.0	64.0					10																	22680840		2203	4300	6503	SPAG6	SO:0001819	synonymous_variant	0			-	HGNC	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1188C>T	10.37:g.22680840C>T		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.L472	ENST00000376624.3	37	c.1416	CCDS7139.1	10																																																																																			-	superfamily_ARM-type_fold		0.358	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	protein_coding	OTTHUMT00000047187.1	C		-		22680840	+1	no_errors	ENST00000376603	ensembl	human	known	74_37	silent	SNP	0.996	T
GAPVD1	26130	genome.wustl.edu	37	9	128099321	128099321	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:128099321C>T	ENST00000495955.1	+	16	2743	c.2453C>T	c.(2452-2454)cCt>cTt	p.P818L	GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000470056.1_Missense_Mutation_p.P818L|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P818L|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P845L|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P797L|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P818L|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P797L			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	818					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCTCTCCTCCTTCTCAGTCA	0.478																																																	0								ENSG00000165219						98.0	94.0	95.0					9																	128099321		2203	4300	6503	GAPVD1	SO:0001583	missense	0			-	HGNC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2453C>T	9.37:g.128099321C>T	ENSP00000419063:p.Pro818Leu	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.P845L	ENST00000495955.1	37	c.2534		9	.	.	.	.	.	.	.	.	.	.	C	36	5.612747	0.96637	.	.	ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.66992	0.2846	N	0.24115	0.695	0.80722	D	1	P;D;D;D;D	0.89917	0.948;0.969;0.969;0.969;1.0	P;P;P;P;D	0.83275	0.666;0.821;0.821;0.821;0.996	T	0.68447	-0.5406	9	0.62326	D	0.03	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	818;818;797;818;845	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	GAPD1_HUMAN;.;.;.;.	L	818;845;818;797;818;818;818;797	.	ENSP00000297933:P818L	P	+	2	0	GAPVD1	127139142	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	CCT	-	NULL		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	C		-		128099321	+1	no_errors	ENST00000394105	ensembl	human	known	74_37	missense	SNP	1.000	T
SIGLEC14	100049587	genome.wustl.edu	37	19	52149119	52149119	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52149119C>T	ENST00000360844.6	-	3	657	c.616G>A	c.(616-618)Gac>Aac	p.D206N	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	206	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GTGCCATGGTCCTCGGGCCTG	0.642																																																	0								ENSG00000254415						51.0	49.0	50.0					19																	52149119		2061	4188	6249	SIGLEC14	SO:0001583	missense	0			-	HGNC	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.616G>A	19.37:g.52149119C>T	ENSP00000354090:p.Asp206Asn	Somatic	0	102	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	45	19.64	Q6UXG0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.D206N	ENST00000360844.6	37	c.616	CCDS42604.1	19	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331073	0.41297	.	.	ENSG00000254415	ENST00000360844	T	0.20332	2.08	3.1	1.93	0.25924	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.48286	D	0.000183	T	0.44286	0.1286	M	0.85462	2.755	0.09310	N	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.09143	-1.0688	10	0.87932	D	0	.	7.462	0.27300	0.0:0.7294:0.2706:0.0	.	206	Q08ET2	SIG14_HUMAN	N	206	ENSP00000354090:D206N	ENSP00000354090:D206N	D	-	1	0	SIGLEC14	56840931	0.839000	0.29477	0.567000	0.28434	0.224000	0.24922	0.200000	0.17257	1.755000	0.51935	0.514000	0.50259	GAC	-	pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like_dom		0.642	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC14	protein_coding	OTTHUMT00000466899.2	C	NM_001098612	-		52149119	-1	no_errors	ENST00000360844	ensembl	human	known	74_37	missense	SNP	0.546	T
RBBP8NL	140893	genome.wustl.edu	37	20	60990633	60990633	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:60990633C>T	ENST00000252998.1	-	8	784		c.e8+1			NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like							extracellular space (GO:0005615)											CCTGCCCTTACCATGTCTGGG	0.647																																																	0								ENSG00000130701						49.0	57.0	54.0					20																	60990633		2203	4298	6501	RBBP8NL	SO:0001630	splice_region_variant	0			-	HGNC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.627+1G>A	20.37:g.60990633C>T		Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e7+1	ENST00000252998.1	37	c.627+1	CCDS13498.1	20	.	.	.	.	.	.	.	.	.	.	C	11.33	1.606292	0.28623	.	.	ENSG00000130701	ENST00000252998	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9171	0.63905	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C20orf151	60424028	0.940000	0.31905	0.984000	0.44739	0.076000	0.17211	1.942000	0.40243	2.078000	0.62432	0.462000	0.41574	.	-	-		0.647	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	protein_coding	OTTHUMT00000080029.1	C	NM_080833	-	Intron	60990633	-1	no_errors	ENST00000252998	ensembl	human	known	74_37	splice_site	SNP	1.000	T
TMEM198	130612	genome.wustl.edu	37	2	220412613	220412613	+	Silent	SNP	C	C	T	rs528953796	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:220412613C>T	ENST00000344458.2	+	4	1137	c.552C>T	c.(550-552)atC>atT	p.I184I	TMEM198_ENST00000373883.3_Silent_p.I184I|RP11-256I23.1_ENST00000596829.1_RNA|MIR3132_ENST00000581997.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	184	Leu-rich.				multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGCGCTGATCGCCACTGCCG	0.701													C|||	4	0.000798722	0.0	0.0	5008	,	,		12362	0.001		0.0	False		,,,				2504	0.0031																0								ENSG00000188760						12.0	11.0	11.0					2																	220412613		2190	4292	6482	TMEM198	SO:0001819	synonymous_variant	0			-	HGNC	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.552C>T	2.37:g.220412613C>T		Somatic	0	115	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I184	ENST00000344458.2	37	c.552	CCDS33385.1	2																																																																																			-	NULL		0.701	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM198	protein_coding	OTTHUMT00000131063.1	C	NM_001005209	-		220412613	+1	no_errors	ENST00000344458	ensembl	human	known	74_37	silent	SNP	0.962	T
DICER1	23405	genome.wustl.edu	37	14	95562579	95562579	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:95562579C>T	ENST00000526495.1	-	25	4969	c.4678G>A	c.(4678-4680)Gcg>Acg	p.A1560T	DICER1_ENST00000343455.3_Missense_Mutation_p.A1560T|DICER1_ENST00000393063.1_Missense_Mutation_p.A1560T|DICER1_ENST00000556045.1_Missense_Mutation_p.A458T|DICER1_ENST00000541352.1_Missense_Mutation_p.A1560T|DICER1_ENST00000527414.1_Missense_Mutation_p.A1560T			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1560					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACAGTCCGCTATGCTTTTG	0.522			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																														yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0								ENSG00000100697						86.0	87.0	87.0					14																	95562579		2203	4300	6503	DICER1	SO:0001583	missense	0	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	-	HGNC	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.4678G>A	14.37:g.95562579C>T	ENSP00000437256:p.Ala1560Thr	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	25	30.56	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom	p.A1560T	ENST00000526495.1	37	c.4678	CCDS9931.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.024983|5.024983	0.93518|0.93518	.|.	.|.	ENSG00000100697|ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000556045;ENST00000541352|ENST00000532939	D;D;D;D;D;D|.	0.82344|.	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Ribonuclease III (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75532|0.75532	0.3862|0.3862	M|M	0.66297|0.66297	2.02|2.02	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.91635|.	0.999;0.999;0.997|.	T|T	0.72507|0.72507	-0.4272|-0.4272	10|5	0.87932|.	D|.	0|.	-20.0269|-20.0269	19.9983|19.9983	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	458;1560;1560|.	B3KRG4;E0AD28;Q9UPY3|.	.;.;DICER_HUMAN|.	T|N	1560;1560;1560;1560;458;1560|238	ENSP00000343745:A1560T;ENSP00000437256:A1560T;ENSP00000376783:A1560T;ENSP00000435681:A1560T;ENSP00000451041:A458T;ENSP00000444719:A1560T|.	ENSP00000343745:A1560T|.	A|S	-|-	1|2	0|0	DICER1|DICER1	94632332|94632332	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.998000|0.998000	0.95712|0.95712	7.456000|7.456000	0.80751|0.80751	2.724000|2.724000	0.93272|0.93272	0.561000|0.561000	0.74099|0.74099	GCG|AGC	-	pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom		0.522	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	DICER1	protein_coding	OTTHUMT00000387997.1	C		-		95562579	-1	no_errors	ENST00000343455	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC22A8	9376	genome.wustl.edu	37	11	62761059	62761059	+	Missense_Mutation	SNP	C	C	T	rs149538913		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:62761059C>T	ENST00000336232.2	-	10	1501	c.1366G>A	c.(1366-1368)Gga>Aga	p.G456R	SLC22A8_ENST00000542795.1_5'Flank|SLC22A8_ENST00000535878.1_Missense_Mutation_p.G333R|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G456R|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G365R|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G456R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	456					glutathione transport (GO:0034635)|response to methotrexate (GO:0031427)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|quaternary ammonium group transmembrane transporter activity (GO:0015651)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Allopurinol(DB00437)|Aminohippurate(DB00345)|Aspartame(DB00168)|Baclofen(DB00181)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Cilastatin(DB01597)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Estradiol(DB00783)|Famotidine(DB00927)|Furosemide(DB00695)|Ganciclovir(DB01004)|Guanidine(DB00536)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|L-Carnitine(DB00583)|Liothyronine(DB00279)|Liotrix(DB01583)|Melatonin(DB01065)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Minocycline(DB01017)|Novobiocin(DB01051)|Oseltamivir(DB00198)|Ouabain(DB01092)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Ranitidine(DB00863)|Salicylic acid(DB00936)|Saxagliptin(DB06335)|Succinic acid(DB00139)|Tenofovir(DB00300)|Tenoxicam(DB00469)|Testosterone(DB00624)|Tetracycline(DB00759)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Zidovudine(DB00495)	ACCATGCTTCCCACGCGGGTC	0.582																																																	0								ENSG00000149452	C	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	1,4401	2.1+/-5.4	0,1,2200	76.0	75.0	75.0		1366,1093,997,1366	5.9	1.0	11	dbSNP_134	75	0,8596		0,0,4298	no	missense,missense,missense,missense	SLC22A8	NM_001184732.1,NM_001184733.1,NM_001184736.1,NM_004254.3	125,125,125,125	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	456/543,365/452,333/420,456/543	62761059	1,12997	2201	4298	6499	SLC22A8	SO:0001583	missense	0			-	HGNC	AF097491, BC022387	CCDS8042.1, CCDS53643.1, CCDS53644.1	11q12.3	2013-05-22			ENSG00000149452	ENSG00000149452		"""Solute carriers"""	10972	protein-coding gene	gene with protein product		607581				10049739	Standard	NM_004254		Approved	OAT3	uc001nwo.3	Q8TCC7	OTTHUMG00000167768	ENST00000336232.2:c.1366G>A	11.37:g.62761059C>T	ENSP00000337335:p.Gly456Arg	Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	B4DPH7|F5GWA8|F5H5J1|O95820|Q59EW9|Q96TC1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.G456R	ENST00000336232.2	37	c.1366	CCDS8042.1	11	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013334	0.93346	2.27E-4	0.0	ENSG00000149452	ENST00000336232;ENST00000540631;ENST00000545207;ENST00000535878;ENST00000311438;ENST00000430500	T;T;T;T;T	0.69306	-0.39;-0.39;-0.39;-0.39;-0.39	5.9	5.9	0.94986	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.88055	0.6334	H	0.96430	3.82	0.53688	D	0.99997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91138	0.4943	10	0.87932	D	0	.	17.7642	0.88473	0.0:1.0:0.0:0.0	.	456;456	Q8TCC7-2;Q8TCC7	.;S22A8_HUMAN	R	456;442;365;333;456;456	ENSP00000337335:G456R;ENSP00000441658:G365R;ENSP00000443368:G333R;ENSP00000311463:G456R;ENSP00000398548:G456R	ENSP00000311463:G456R	G	-	1	0	SLC22A8	62517635	0.997000	0.39634	0.982000	0.44146	0.983000	0.72400	6.302000	0.72788	2.793000	0.96121	0.591000	0.81541	GGA	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.582	SLC22A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A8	protein_coding	OTTHUMT00000396191.1	C	NM_004254	rs149538913		62761059	-1	no_errors	ENST00000336232	ensembl	human	known	74_37	missense	SNP	1.000	T
GCN1L1	10985	genome.wustl.edu	37	12	120580481	120580481	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:120580481C>T	ENST00000300648.6	-	44	5671	c.5659G>A	c.(5659-5661)Gca>Aca	p.A1887T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1887					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACAGCCCTGCCAACACCCGG	0.617																																																	0								ENSG00000089154						39.0	47.0	44.0					12																	120580481		1976	4143	6119	GCN1L1	SO:0001583	missense	0			-	HGNC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5659G>A	12.37:g.120580481C>T	ENSP00000300648:p.Ala1887Thr	Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.A1887T	ENST00000300648.6	37	c.5659	CCDS41847.1	12	.	.	.	.	.	.	.	.	.	.	C	32	5.163831	0.94727	.	.	ENSG00000089154	ENST00000300648	T	0.59772	0.24	5.97	5.97	0.96955	Armadillo-like helical (1);Armadillo-type fold (1);	0.051982	0.85682	D	0.000000	T	0.78824	0.4344	M	0.87682	2.9	0.58432	D	0.999999	D	0.67145	0.996	P	0.60236	0.871	T	0.81217	-0.1033	10	0.72032	D	0.01	.	20.4239	0.99064	0.0:1.0:0.0:0.0	.	1887	Q92616	GCN1L_HUMAN	T	1887	ENSP00000300648:A1887T	ENSP00000300648:A1887T	A	-	1	0	GCN1L1	119064864	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	5.748000	0.68697	2.828000	0.97474	0.655000	0.94253	GCA	-	superfamily_ARM-type_fold		0.617	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	C		-		120580481	-1	no_errors	ENST00000300648	ensembl	human	known	74_37	missense	SNP	1.000	T
MAP4K1	11184	genome.wustl.edu	37	19	39104934	39104934	+	Splice_Site	SNP	T	T	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:39104934T>G	ENST00000591517.1	-	6	398		c.e6-2		MAP4K1_ENST00000586296.1_Splice_Site|MAP4K1_ENST00000589130.1_Splice_Site|MAP4K1_ENST00000589002.1_5'Flank|MAP4K1_ENST00000396857.2_Splice_Site|MAP4K1_ENST00000423454.2_5'Flank	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1						activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|cell proliferation (GO:0008283)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to stress (GO:0006950)	membrane (GO:0016020)	ATP binding (GO:0005524)|MAP kinase kinase kinase kinase activity (GO:0008349)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCAGTCCCTGGGGAGAAGG	0.622																																																	0								ENSG00000104814						106.0	108.0	107.0					19																	39104934		1894	4112	6006	MAP4K1	SO:0001630	splice_region_variant	0			-	HGNC	U66464	CCDS42564.1, CCDS59385.1	19q13.1-q13.4	2011-06-09				ENSG00000104814	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6863	protein-coding gene	gene with protein product	"""hematopoietic progenitor kinase 1"""	601983				8824585	Standard	NM_001042600		Approved	HPK1	uc002oix.1	Q92918		ENST00000591517.1:c.370-2A>C	19.37:g.39104934T>G		Somatic	0	117	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	47	20.34		Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e6-2	ENST00000591517.1	37	c.370-2	CCDS59385.1	19	.	.	.	.	.	.	.	.	.	.	T	18.56	3.650662	0.67472	.	.	ENSG00000104814	ENST00000396857;ENST00000221409	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2839	0.60232	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAP4K1	43796774	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.197000	0.77814	2.020000	0.59435	0.460000	0.39030	.	-	-		0.622	MAP4K1-002	KNOWN	basic|CCDS	protein_coding	MAP4K1	protein_coding	OTTHUMT00000453390.1	T	NM_001042600	-	Intron	39104934	-1	no_errors	ENST00000591517	ensembl	human	known	74_37	splice_site	SNP	1.000	G
SCN9A	6335	genome.wustl.edu	37	2	167133824	167133824	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:167133824G>A	ENST00000409435.1	-	15	2542	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.S849F|SCN9A_ENST00000409672.1_Missense_Mutation_p.S837F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S849F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	848					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTTGGCCAGGATTTTGCCAA	0.363																																																	0								ENSG00000169432						81.0	81.0	81.0					2																	167133824		2203	4300	6503	SCN9A	SO:0001583	missense	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2543C>T	2.37:g.167133824G>A	ENSP00000386330:p.Ser848Phe	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.S849F	ENST00000409435.1	37	c.2546	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842671	0.91197	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98437	-4.93;-4.93;-4.93;-4.93	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000005	D	0.98858	0.9614	M	0.76328	2.33	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	D	0.99833	1.1055	10	0.87932	D	0	.	20.0344	0.97551	0.0:0.0:1.0:0.0	.	837	E7EUN6	.	F	837;849;849;848	ENSP00000386306:S837F;ENSP00000364536:S849F;ENSP00000304748:S849F;ENSP00000386330:S848F	ENSP00000304748:S849F	S	-	2	0	SCN9A	166842070	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.664000	0.98607	2.803000	0.96430	0.650000	0.86243	TCC	-	pfam_Ion_trans_dom		0.363	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	G	NM_002977	-		167133824	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	SNP	1.000	A
DKK2	27123	genome.wustl.edu	37	4	107845759	107845759	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:107845759G>A	ENST00000285311.3	-	3	1177	c.472C>T	c.(472-474)Cat>Tat	p.H158Y	DKK2_ENST00000513208.1_Missense_Mutation_p.H58Y|DKK2_ENST00000510463.1_Missense_Mutation_p.H112Y	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	158					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CCCAAGTCATGGTTTGAGTAA	0.433																																																	0								ENSG00000155011						227.0	203.0	211.0					4																	107845759		2203	4300	6503	DKK2	SO:0001583	missense	0			-	HGNC	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.472C>T	4.37:g.107845759G>A	ENSP00000285311:p.His158Tyr	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.H158Y	ENST00000285311.3	37	c.472	CCDS3675.1	4	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747781	0.49257	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.44482	0.92;0.94;0.93	5.66	5.66	0.87406	.	0.116019	0.52532	D	0.000065	T	0.20740	0.0499	N	0.08118	0	0.31282	N	0.690463	B;B	0.31485	0.052;0.325	B;B	0.24394	0.053;0.042	T	0.15263	-1.0443	10	0.16420	T	0.52	-0.0478	12.7725	0.57429	0.0:0.0:0.7267:0.2733	.	158;158	Q9H3R7;Q9UBU2	.;DKK2_HUMAN	Y	158;58;112	ENSP00000285311:H158Y;ENSP00000421255:H58Y;ENSP00000423797:H112Y	ENSP00000285311:H158Y	H	-	1	0	DKK2	108065208	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.448000	0.52943	2.669000	0.90835	0.585000	0.79938	CAT	-	NULL		0.433	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	protein_coding	OTTHUMT00000253959.4	G		-		107845759	-1	no_errors	ENST00000285311	ensembl	human	novel	74_37	missense	SNP	0.993	A
DLL3	10683	genome.wustl.edu	37	19	39991283	39991283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:39991283G>A	ENST00000205143.4	+	3	387	c.380G>A	c.(379-381)tGg>tAg	p.W127*	DLL3_ENST00000356433.5_Nonsense_Mutation_p.W127*	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	127					compartment pattern specification (GO:0007386)|negative regulation of neurogenesis (GO:0050768)|Notch signaling pathway (GO:0007219)|paraxial mesoderm development (GO:0048339)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)	integral component of membrane (GO:0016021)	Notch binding (GO:0005112)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATCGAAACCTGGAGAGAGGAG	0.532																																																	0								ENSG00000090932						145.0	140.0	142.0					19																	39991283		2203	4300	6503	DLL3	SO:0001587	stop_gained	0			-	HGNC	AF241373	CCDS12537.1, CCDS12538.1	19q13.2	2008-05-14	2001-12-03			ENSG00000090932			2909	protein-coding gene	gene with protein product		602768	"""delta (Drosophila)-like 3"""			10364530, 10742114	Standard	NM_203486		Approved	SCDO1	uc002olx.2	Q9NYJ7		ENST00000205143.4:c.380G>A	19.37:g.39991283G>A	ENSP00000205143:p.Trp127*	Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	43	15.69	E9PFG2|Q8NBS4	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.W127*	ENST00000205143.4	37	c.380	CCDS12538.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.775594	0.96922	.	.	ENSG00000090932	ENST00000356433;ENST00000205143	.	.	.	4.45	4.45	0.53987	.	0.367704	0.20117	N	0.098887	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8434	0.70243	0.0:0.0:1.0:0.0	.	.	.	.	X	127	.	.	W	+	2	0	DLL3	44683123	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.987000	0.76206	2.426000	0.82243	0.561000	0.74099	TGG	-	NULL		0.532	DLL3-002	KNOWN	basic|CCDS	protein_coding	DLL3	protein_coding	OTTHUMT00000464958.1	G		-		39991283	+1	no_errors	ENST00000205143	ensembl	human	known	74_37	nonsense	SNP	1.000	A
MTMR9LP	339483	genome.wustl.edu	37	1	32706031	32706031	+	RNA	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:32706031A>T	ENST00000441044.1	-	0	718									myotubularin related protein 9-like, pseudogene																		CCGGGCCAAAAAGAAAAGGCC	0.672																																					Melanoma(41;686 1336 34611 48972)												0								ENSG00000220785																																			MTMR9LP			0			-	HGNC			1p35.1	2010-10-28	2010-04-29	2010-10-28	ENSG00000220785	ENSG00000220785			27920	pseudogene	pseudogene			"""myotubularin related protein 9-like"""	MTMR9L		12477932	Standard	NR_026850		Approved		uc001buv.4		OTTHUMG00000007461		1.37:g.32706031A>T		Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000441044.1	37	NULL		1																																																																																			-	-		0.672	MTMR9LP-003	KNOWN	basic	processed_transcript	MTMR9LP	pseudogene	OTTHUMT00000019609.2	A	NR_026850	-		32706031	-1	no_errors	ENST00000423995	ensembl	human	known	74_37	rna	SNP	0.001	T
DOCK3	1795	genome.wustl.edu	37	3	51297659	51297659	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:51297659G>A	ENST00000266037.9	+	23	2280	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	753					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TGGAATGGAAGAGGAACAATT	0.458																																																	0								ENSG00000088538						96.0	97.0	97.0					3																	51297659		1949	4148	6097	DOCK3	SO:0001583	missense	0			-	HGNC	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.2257G>A	3.37:g.51297659G>A	ENSP00000266037:p.Glu753Lys	Somatic	0	101	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	58	12.12	O15017	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.E753K	ENST00000266037.9	37	c.2257	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.923024	0.97110	.	.	ENSG00000088538	ENST00000266037	T	0.68903	-0.36	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81612	0.4859	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.77925	-0.2405	10	0.34782	T	0.22	.	20.3368	0.98748	0.0:0.0:1.0:0.0	.	753	Q8IZD9	DOCK3_HUMAN	K	753	ENSP00000266037:E753K	ENSP00000266037:E753K	E	+	1	0	DOCK3	51272699	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	GAG	-	superfamily_ARM-type_fold		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	protein_coding	OTTHUMT00000346478.5	G	NM_004947	-		51297659	+1	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	SNP	1.000	A
NCR1	9437	genome.wustl.edu	37	19	55420788	55420788	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:55420788G>A	ENST00000291890.4	+	4	578	c.540G>A	c.(538-540)gtG>gtA	p.V180V	NCR1_ENST00000357397.5_Silent_p.V73V|NCR1_ENST00000350790.5_Silent_p.V85V|NCR1_ENST00000338835.5_Silent_p.V180V|NCR1_ENST00000598576.1_Silent_p.V168V|NCR1_ENST00000447255.1_Silent_p.V180V|NCR1_ENST00000594765.1_Silent_p.V180V	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	180	Ig-like 2.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TGGGCCCTGTGACCACAGCCC	0.577																																																	0								ENSG00000189430						90.0	86.0	87.0					19																	55420788		2203	4300	6503	NCR1	SO:0001819	synonymous_variant	0			-	HGNC	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.540G>A	19.37:g.55420788G>A		Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Ig_sub	p.V180	ENST00000291890.4	37	c.540	CCDS12911.1	19																																																																																			-	smart_Ig_sub		0.577	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR1	protein_coding	OTTHUMT00000465680.1	G		-		55420788	+1	no_errors	ENST00000291890	ensembl	human	known	74_37	silent	SNP	0.014	A
HRNR	388697	genome.wustl.edu	37	1	152193480	152193480	+	Missense_Mutation	SNP	C	C	A	rs149944132		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152193480C>A	ENST00000368801.2	-	3	700	c.625G>T	c.(625-627)Ggc>Tgc	p.G209C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	209					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGAGCCGTGTTGGCCA	0.572																																																	0								ENSG00000197915						113.0	123.0	120.0					1																	152193480		2203	4300	6503	HRNR	SO:0001583	missense	0			-	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.625G>T	1.37:g.152193480C>A	ENSP00000357791:p.Gly209Cys	Somatic	0	88	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	31	20.51	Q5DT20|Q5U1F4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.G209C	ENST00000368801.2	37	c.625	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	5.127	0.209080	0.09757	.	.	ENSG00000197915	ENST00000368801	T	0.03860	3.78	3.61	-3.77	0.04346	.	.	.	.	.	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	D	0.76494	0.999	D	0.68039	0.955	T	0.32851	-0.9891	9	0.66056	D	0.02	.	1.4995	0.02474	0.1363:0.3784:0.1335:0.3518	.	209	Q86YZ3	HORN_HUMAN	C	209	ENSP00000357791:G209C	ENSP00000357791:G209C	G	-	1	0	HRNR	150460104	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.558000	0.02164	-1.003000	0.03425	-1.163000	0.01768	GGC	-	NULL		0.572	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	C	XM_373868	-		152193480	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	missense	SNP	0.000	A
SLC36A2	153201	genome.wustl.edu	37	5	150696516	150696516	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:150696516G>A	ENST00000335244.4	-	10	1443	c.1314C>T	c.(1312-1314)ccC>ccT	p.P438P	SLC36A2_ENST00000450886.1_Silent_p.P162P	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	438					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	AGATGGTGAGGGGGCTCATGC	0.622																																																	0								ENSG00000186335						78.0	67.0	71.0					5																	150696516		2203	4300	6503	SLC36A2	SO:0001819	synonymous_variant	0			-	HGNC	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1314C>T	5.37:g.150696516G>A		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AA_transpt_TM	p.P438	ENST00000335244.4	37	c.1314	CCDS4315.1	5																																																																																			-	pfam_AA_transpt_TM		0.622	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	protein_coding	OTTHUMT00000252437.1	G		-		150696516	-1	no_errors	ENST00000335244	ensembl	human	known	74_37	silent	SNP	0.430	A
LRRC31	79782	genome.wustl.edu	37	3	169558092	169558092	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:169558092A>G	ENST00000316428.5	-	9	1394	c.1337T>C	c.(1336-1338)aTa>aCa	p.I446T	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.I390T	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	446										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ACCCGTCTGTATGACCGATGC	0.473																																																	0								ENSG00000114248						70.0	64.0	66.0					3																	169558092		1972	4165	6137	LRRC31	SO:0001583	missense	0			-	HGNC	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.1337T>C	3.37:g.169558092A>G	ENSP00000325978:p.Ile446Thr	Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.I446T	ENST00000316428.5	37	c.1337	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	A	3.145	-0.175443	0.06421	.	.	ENSG00000114248	ENST00000316428;ENST00000264676	T;T	0.55234	0.53;0.53	4.37	3.21	0.36854	.	0.513043	0.22973	N	0.053411	T	0.41003	0.1140	M	0.64997	1.995	0.09310	N	1	P;P	0.43352	0.804;0.704	B;B	0.35039	0.194;0.065	T	0.40478	-0.9561	10	0.46703	T	0.11	-3.4099	4.6123	0.12408	0.5918:0.158:0.2502:0.0	.	390;446	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	T	446;390	ENSP00000325978:I446T;ENSP00000264676:I390T	ENSP00000264676:I390T	I	-	2	0	LRRC31	171040786	0.001000	0.12720	0.004000	0.12327	0.149000	0.21700	0.601000	0.24119	0.649000	0.30751	0.454000	0.30748	ATA	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.473	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	protein_coding	OTTHUMT00000378699.1	A	NM_024727	-		169558092	-1	no_errors	ENST00000316428	ensembl	human	known	74_37	missense	SNP	0.000	G
PIK3CG	5294	genome.wustl.edu	37	7	106508271	106508271	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:106508271C>T	ENST00000359195.3	+	2	575	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	PIK3CG_ENST00000496166.1_Missense_Mutation_p.H89Y|PIK3CG_ENST00000440650.2_Missense_Mutation_p.H89Y	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	89	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACTTCTACCACCGGCTGGG	0.632																																																	0								ENSG00000105851						24.0	26.0	26.0					7																	106508271		2198	4294	6492	PIK3CG	SO:0001583	missense	0			-	HGNC		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.265C>T	7.37:g.106508271C>T	ENSP00000352121:p.His89Tyr	Somatic	0	88	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	23	36.11	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H89Y	ENST00000359195.3	37	c.265	CCDS5739.1	7	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849227	0.32699	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.70045	-0.45;-0.45;-0.45	5.64	5.64	0.86602	.	0.251252	0.48767	N	0.000174	T	0.63593	0.2524	L	0.44542	1.39	0.54753	D	0.999981	B	0.21147	0.052	B	0.16722	0.016	T	0.59663	-0.7412	10	0.62326	D	0.03	-16.5734	20.0585	0.97663	0.0:1.0:0.0:0.0	.	89	P48736	PK3CG_HUMAN	Y	89	ENSP00000392258:H89Y;ENSP00000419260:H89Y;ENSP00000352121:H89Y	ENSP00000352121:H89Y	H	+	1	0	PIK3CG	106295507	1.000000	0.71417	0.954000	0.39281	0.275000	0.26752	5.924000	0.70054	2.812000	0.96745	0.557000	0.71058	CAC	-	NULL		0.632	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIK3CG	protein_coding	OTTHUMT00000349294.1	C		-		106508271	+1	no_errors	ENST00000359195	ensembl	human	known	74_37	missense	SNP	1.000	T
IL9R	3581	genome.wustl.edu	37	X	155239914	155239914	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:155239914C>T	ENST00000244174.5	+	9	1585	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.A448V|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	469					cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCCATCCCAGCCCTGGCCTGT	0.617																																																	0								ENSG00000124334						4.0	6.0	6.0					X																	155239914		1619	3406	5025	IL9R	SO:0001583	missense	0			-	HGNC	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1406C>T	X.37:g.155239914C>T	ENSP00000244174:p.Ala469Val	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Fibronectin_type3	p.A469V	ENST00000244174.5	37	c.1406	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	c	5.191	0.220864	0.09863	.	.	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.17370	2.28;2.28	1.44	1.44	0.22558	.	290.321000	0.00166	N	0.000000	T	0.08313	0.0207	.	.	.	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.27971	-1.0058	9	0.08837	T	0.75	-11.7044	5.8372	0.18613	0.0:1.0:0.0:0.0	.	469	Q01113	IL9R_HUMAN	V	469;448	ENSP00000244174:A469V;ENSP00000388918:A448V	ENSP00000244174:A469V	A	+	2	0	IL9R	154893108	0.006000	0.16342	0.001000	0.08648	0.006000	0.05464	0.713000	0.25794	1.015000	0.39444	0.287000	0.19450	GCC	-	NULL		0.617	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	protein_coding	OTTHUMT00000058981.1	C	NM_002186	-		155239914	+1	no_errors	ENST00000244174	ensembl	human	known	74_37	missense	SNP	0.001	T
ANKRD34A	284615	genome.wustl.edu	37	1	145474292	145474292	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:145474292G>A	ENST00000323397.4	+	4	2257	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RP11-315I20.1_ENST00000600340.1_RNA|LIX1L_ENST00000369308.3_5'Flank	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	322	Pro-rich.					cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAGCTCAGGAGTCTGGTCC	0.637																																																	0								ENSG00000181039						38.0	42.0	41.0					1																	145474292		2203	4300	6503	ANKRD34A	SO:0001583	missense	0			-	HGNC	AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.964G>A	1.37:g.145474292G>A	ENSP00000314103:p.Glu322Lys	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	B3KSU3	Missense_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	p.E322K	ENST00000323397.4	37	c.964	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941282	0.53079	.	.	ENSG00000181039	ENST00000323397	T	0.73469	-0.75	4.95	4.95	0.65309	.	0.133482	0.47093	D	0.000257	T	0.61211	0.2329	L	0.46157	1.445	0.42441	D	0.992714	P	0.45531	0.86	B	0.41332	0.354	T	0.68044	-0.5513	10	0.52906	T	0.07	-16.3514	15.7847	0.78294	0.0:0.0:1.0:0.0	.	322	Q69YU3	AN34A_HUMAN	K	322	ENSP00000314103:E322K	ENSP00000314103:E322K	E	+	1	0	ANKRD34A	144185649	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.744000	0.55112	2.578000	0.87016	0.460000	0.39030	GAG	-	NULL		0.637	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	protein_coding	OTTHUMT00000038512.1	G		-		145474292	+1	no_errors	ENST00000323397	ensembl	human	known	74_37	missense	SNP	1.000	A
SNTG2	54221	genome.wustl.edu	37	2	1079275	1079275	+	Silent	SNP	G	G	A	rs375588833		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:1079275G>A	ENST00000308624.5	+	2	273	c.144G>A	c.(142-144)acG>acA	p.T48T	SNTG2_ENST00000407292.1_Silent_p.T48T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	48					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAAGCTGACGAAAGAGGTGC	0.468																																																	0								ENSG00000172554						124.0	123.0	123.0					2																	1079275		2005	4178	6183	SNTG2	SO:0001819	synonymous_variant	0			-	HGNC	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.144G>A	2.37:g.1079275G>A		Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	Q05AH5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T48	ENST00000308624.5	37	c.144	CCDS46220.1	2																																																																																			-	superfamily_PDZ		0.468	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	protein_coding	OTTHUMT00000322454.1	G	NM_018968	-		1079275	+1	no_errors	ENST00000308624	ensembl	human	known	74_37	silent	SNP	0.547	A
HTT	3064	genome.wustl.edu	37	4	3188392	3188392	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:3188392C>T	ENST00000355072.5	+	38	5080	c.4935C>T	c.(4933-4935)tcC>tcT	p.S1645S		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1645					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCCTTCCTCCCTCCGTCCGG	0.468																																																	0								ENSG00000197386						235.0	218.0	223.0					4																	3188392		1938	4137	6075	HTT	SO:0001819	synonymous_variant	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.4935C>T	4.37:g.3188392C>T		Somatic	0	115	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65	Q9UQB7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.S1645	ENST00000355072.5	37	c.4935	CCDS43206.1	4																																																																																			-	NULL		0.468	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	C	NM_002111	-		3188392	+1	no_errors	ENST00000355072	ensembl	human	known	74_37	silent	SNP	1.000	T
DNAJB11	51726	genome.wustl.edu	37	3	186299164	186299164	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:186299164T>A	ENST00000439351.1	+	6	1390	c.461T>A	c.(460-462)gTt>gAt	p.V154D	DNAJB11_ENST00000265028.3_Missense_Mutation_p.V154D			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	154					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|mRNA modification (GO:0016556)|protein folding (GO:0006457)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TCCTAGGTAGTTAGAAACAAA	0.502																																																	0								ENSG00000090520						90.0	83.0	85.0					3																	186299164		2203	4300	6503	DNAJB11	SO:0001583	missense	0			-	HGNC	AB028859	CCDS3277.1	3q27	2011-09-02			ENSG00000090520	ENSG00000090520		"""Heat shock proteins / DNAJ (HSP40)"""	14889	protein-coding gene	gene with protein product		611341				10827079, 11147971	Standard	NM_016306		Approved	EDJ, HEDJ, ERdj3	uc003fqi.3	Q9UBS4	OTTHUMG00000156614	ENST00000439351.1:c.461T>A	3.37:g.186299164T>A	ENSP00000414398:p.Val154Asp	Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	Q542Y5|Q542Y9|Q6IAQ8|Q96JC6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.V154D	ENST00000439351.1	37	c.461	CCDS3277.1	3	.	.	.	.	.	.	.	.	.	.	T	19.50	3.840152	0.71488	.	.	ENSG00000090520	ENST00000439351;ENST00000265028	T;T	0.67698	-0.28;-0.28	6.03	6.03	0.97812	HSP40/DnaJ peptide-binding (1);	0.056252	0.64402	D	0.000001	T	0.59500	0.2198	L	0.48218	1.51	0.80722	D	1	P	0.35944	0.529	B	0.37047	0.24	T	0.56347	-0.7994	10	0.12766	T	0.61	-19.1327	14.5176	0.67830	0.0:0.0:0.0:1.0	.	154	Q9UBS4	DJB11_HUMAN	D	154	ENSP00000414398:V154D;ENSP00000265028:V154D	ENSP00000265028:V154D	V	+	2	0	DNAJB11	187781858	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	8.007000	0.88571	2.302000	0.77476	0.533000	0.62120	GTT	-	superfamily_HSP40/DnaJ_pept-bd		0.502	DNAJB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB11	protein_coding	OTTHUMT00000344779.1	T		-		186299164	+1	no_errors	ENST00000265028	ensembl	human	known	74_37	missense	SNP	1.000	A
DNAH2	146754	genome.wustl.edu	37	17	7726772	7726772	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:7726772G>A	ENST00000572933.1	+	74	12615	c.11155G>A	c.(11155-11157)Gag>Aag	p.E3719K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E3719K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3719					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTTGGATCGGGAGGGCCAAAT	0.478																																																	0								ENSG00000183914						151.0	136.0	141.0					17																	7726772		2203	4300	6503	DNAH2	SO:0001583	missense	0			-	HGNC	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.11155G>A	17.37:g.7726772G>A	ENSP00000458355:p.Glu3719Lys	Somatic	0	93	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E3719K	ENST00000572933.1	37	c.11155	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	15.49	2.847783	0.51164	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.54279	0.58	5.35	5.35	0.76521	.	0.142101	0.49916	D	0.000128	T	0.41581	0.1165	L	0.31476	0.935	0.80722	D	1	B;B	0.22146	0.065;0.02	B;B	0.27608	0.049;0.081	T	0.28744	-1.0034	10	0.06891	T	0.86	.	17.8305	0.88680	0.0:0.0:1.0:0.0	.	3680;3719	Q9P225-2;Q9P225	.;DYH2_HUMAN	K	3680;3719	ENSP00000373825:E3719K	ENSP00000353818:E3680K	E	+	1	0	DNAH2	7667497	1.000000	0.71417	0.998000	0.56505	0.928000	0.56348	4.648000	0.61425	2.516000	0.84829	0.609000	0.83330	GAG	-	NULL		0.478	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	protein_coding	OTTHUMT00000440241.1	G	NM_020877	-		7726772	+1	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	SNP	0.986	A
C8orf48	157773	genome.wustl.edu	37	8	13425459	13425459	+	Nonstop_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:13425459A>T	ENST00000297324.4	+	1	1108	c.959A>T	c.(958-960)tAa>tTa	p.*320L	RP11-145O15.3_ENST00000529018.1_RNA	NM_001007090.2	NP_001007091	Q96LL4	CH048_HUMAN	chromosome 8 open reading frame 48	0										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	5						GATAATGTGTAATGTGGATAG	0.358																																																	0								ENSG00000164743						40.0	36.0	37.0					8																	13425459		692	1591	2283	C8orf48	SO:0001578	stop_lost	0			-	HGNC	AK058131	CCDS47809.1	8p22	2012-04-13			ENSG00000164743	ENSG00000164743			26345	protein-coding gene	gene with protein product						12477932	Standard	NM_001007090		Approved	FLJ25402	uc003wwp.3	Q96LL4	OTTHUMG00000165482	ENST00000297324.4:c.959A>T	8.37:g.13425459A>T	ENSP00000297324:p.*320Leuext*3	Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	21	41.67	Q96LJ9	Nonstop_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.*320L	ENST00000297324.4	37	c.959	CCDS47809.1	8	.	.	.	.	.	.	.	.	.	.	A	6.894	0.534462	0.13188	.	.	ENSG00000164743	ENST00000297324	.	.	.	4.32	-1.4	0.08968	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6	0.00743	0.463:0.1823:0.176:0.1787	.	.	.	.	L	320	.	.	X	+	2	2	C8orf48	13469830	0.000000	0.05858	0.002000	0.10522	0.264000	0.26372	-0.620000	0.05565	-0.016000	0.14127	0.533000	0.62120	TAA	-	NULL		0.358	C8orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf48	protein_coding	OTTHUMT00000384400.1	A	NM_001007090	-		13425459	+1	no_errors	ENST00000297324	ensembl	human	known	74_37	nonstop	SNP	0.000	T
NOTCH1	4851	genome.wustl.edu	37	9	139407472	139407472	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139407472C>T	ENST00000277541.6	-	15	2543		c.e15+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCACCCCTCACCTGTGTAGGG	0.652			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0								ENSG00000148400						48.0	44.0	45.0					9																	139407472		1962	4126	6088	NOTCH1	SO:0001630	splice_region_variant	0			-	HGNC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2467+1G>A	9.37:g.139407472C>T		Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	Q59ED8|Q5SXM3	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e15+1	ENST00000277541.6	37	c.2467+1	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170080	0.78452	.	.	ENSG00000148400	ENST00000277541	.	.	.	4.58	4.58	0.56647	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3474	0.83146	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138527293	1.000000	0.71417	0.992000	0.48379	0.788000	0.44548	7.320000	0.79064	2.095000	0.63458	0.455000	0.32223	.	-	-		0.652	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617	-	Intron	139407472	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	splice_site	SNP	1.000	T
INTS2	57508	genome.wustl.edu	37	17	59945019	59945019	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:59945019C>T	ENST00000444766.3	-	25	3589	c.3514G>A	c.(3514-3516)Gga>Aga	p.G1172R	INTS2_ENST00000251334.6_Missense_Mutation_p.G1164R	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	1172					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TCCCTGGATCCATTTTTATAA	0.348																																																	0								ENSG00000108506						71.0	70.0	71.0					17																	59945019		1836	4084	5920	INTS2	SO:0001583	missense	0			-	HGNC	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.3514G>A	17.37:g.59945019C>T	ENSP00000414237:p.Gly1172Arg	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q9ULD3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G1172R	ENST00000444766.3	37	c.3514	CCDS45750.1	17	.	.	.	.	.	.	.	.	.	.	C	12.87	2.067548	0.36470	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.43294	0.95	5.96	5.96	0.96718	.	0.282882	0.39020	N	0.001490	T	0.28928	0.0718	N	0.08118	0	0.31069	N	0.713235	P	0.39883	0.693	B	0.43082	0.407	T	0.18618	-1.0331	9	.	.	.	-15.783	14.8194	0.70059	0.1528:0.8472:0.0:0.0	.	1172	Q9H0H0	INT2_HUMAN	R	1172;1171	ENSP00000414237:G1172R	.	G	-	1	0	INTS2	57299801	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.095000	0.50235	2.830000	0.97506	0.585000	0.79938	GGA	-	NULL		0.348	INTS2-001	KNOWN	basic|CCDS	protein_coding	INTS2	protein_coding	OTTHUMT00000445368.1	C	NM_020748	-		59945019	-1	no_errors	ENST00000444766	ensembl	human	known	74_37	missense	SNP	1.000	T
GSN	2934	genome.wustl.edu	37	9	124045770	124045770	+	Intron	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:124045770T>C	ENST00000373823.3	+	9	896				GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN-AS1_ENST00000414544.1_RNA|RP11-477J21.6_ENST00000437135.1_RNA			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						gagacagggttttaccatgtt	0.527																																																	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+1930T>C	9.37:g.124045770T>C		Somatic	0	13	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000373823.3	37	NULL	CCDS6829.1	9																																																																																			-	-		0.527	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	GSN-AS1	protein_coding	OTTHUMT00000254323.3	T	NM_000177	-		124045770	-1	no_errors	ENST00000414544	ensembl	human	known	74_37	rna	SNP	0.011	C
PKIB	5570	genome.wustl.edu	37	6	123039007	123039007	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:123039007G>A	ENST00000368448.1	+	5	695	c.68G>A	c.(67-69)aGg>aAg	p.R23K	PKIB_ENST00000392491.2_Missense_Mutation_p.R23K|PKIB_ENST00000368446.1_Missense_Mutation_p.R32K|PKIB_ENST00000258014.3_Missense_Mutation_p.R30K|PKIB_ENST00000392490.1_Missense_Mutation_p.R23K|PKIB_ENST00000354275.2_Missense_Mutation_p.R23K|PKIB_ENST00000368452.2_Missense_Mutation_p.R23K			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	23		Important for inhibition. {ECO:0000250}.					cAMP-dependent protein kinase inhibitor activity (GO:0004862)			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TCTTCAGCAAGGGCAGGCCGC	0.498																																																	0								ENSG00000135549						115.0	109.0	111.0					6																	123039007		2203	4300	6503	PKIB	SO:0001583	missense	0			-	HGNC		CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.68G>A	6.37:g.123039007G>A	ENSP00000357433:p.Arg23Lys	Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	B2RCK2|Q567T9|Q5T0Z7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI	p.R30K	ENST00000368448.1	37	c.89	CCDS5126.1	6	.	.	.	.	.	.	.	.	.	.	G	35	5.506863	0.96386	.	.	ENSG00000135549	ENST00000392491;ENST00000368452;ENST00000368448;ENST00000392490;ENST00000258014;ENST00000354275;ENST00000368446	.	.	.	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.81475	0.4830	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.82790	-0.0283	8	0.87932	D	0	-19.6588	19.4279	0.94751	0.0:0.0:1.0:0.0	.	30;23	Q5T0Z7;Q9C010	.;IPKB_HUMAN	K	23;23;23;23;30;23;32	.	ENSP00000258014:R30K	R	+	2	0	PKIB	123080706	1.000000	0.71417	0.622000	0.29159	0.902000	0.53008	7.567000	0.82357	2.824000	0.97209	0.655000	0.94253	AGG	-	pfam_cAMP_dep_PKI,pirsf_cAMP_dep_PKI		0.498	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PKIB	protein_coding	OTTHUMT00000042035.1	G		-		123039007	+1	no_errors	ENST00000258014	ensembl	human	known	74_37	missense	SNP	0.993	A
DNAH7	56171	genome.wustl.edu	37	2	196746611	196746611	+	Nonsense_Mutation	SNP	G	G	A	rs149212659		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:196746611G>A	ENST00000312428.6	-	36	5969	c.5869C>T	c.(5869-5871)Cga>Tga	p.R1957*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1957	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R1957*(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCAGAGTATCGAATTGTGTCC	0.378																																																	1	Substitution - Nonsense(1)	skin(1)						ENSG00000118997						176.0	160.0	165.0					2																	196746611		1849	4092	5941	DNAH7	SO:0001587	stop_gained	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.5869C>T	2.37:g.196746611G>A	ENSP00000311273:p.Arg1957*	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	45	28.57	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.R1957*	ENST00000312428.6	37	c.5869	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	46	12.697337	0.99689	.	.	ENSG00000118997	ENST00000312428	.	.	.	5.04	4.09	0.47781	.	0.066913	0.64402	D	0.000017	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.864	0.63576	0.0:0.0:0.7703:0.2297	.	.	.	.	X	1957	.	ENSP00000311273:R1957X	R	-	1	2	DNAH7	196454856	1.000000	0.71417	0.830000	0.32933	0.924000	0.55760	6.078000	0.71282	2.618000	0.88619	0.585000	0.79938	CGA	-	superfamily_P-loop_NTPase		0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	G	NM_018897	rs149212659		196746611	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	nonsense	SNP	0.998	A
PCED1A	64773	genome.wustl.edu	37	20	2819117	2819117	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:2819117G>A	ENST00000360652.2	-	6	1104	c.602C>T	c.(601-603)cCc>cTc	p.P201L	VPS16_ENST00000380469.3_5'Flank|VPS16_ENST00000380445.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.P150L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	201																	GCCTGCCAGGGGCTGGAGCTA	0.567																																																	0								ENSG00000132635						48.0	53.0	51.0					20																	2819117		2203	4300	6503	PCED1A	SO:0001583	missense	0			-	HGNC	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.602C>T	20.37:g.2819117G>A	ENSP00000353868:p.Pro201Leu	Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P201L	ENST00000360652.2	37	c.602	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	G	3.603	-0.081108	0.07141	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000448755;ENST00000439542	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.28	4.28	0.50868	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);	0.205283	0.40728	N	0.001038	T	0.16257	0.0391	N	0.12182	0.205	0.46586	D	0.999119	B;D;B;B	0.71674	0.001;0.998;0.157;0.0	B;P;B;B	0.58620	0.007;0.842;0.176;0.004	T	0.06338	-1.0832	10	0.11182	T	0.66	-7.6263	12.4152	0.55490	0.0:0.0:1.0:0.0	.	150;197;48;201	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	L	150;201;150;201	ENSP00000349334:P150L;ENSP00000353868:P201L;ENSP00000388935:P150L;ENSP00000401711:P201L	ENSP00000349334:P150L	P	-	2	0	FAM113A	2767117	1.000000	0.71417	1.000000	0.80357	0.746000	0.42486	3.139000	0.50577	2.397000	0.81536	0.563000	0.77884	CCC	-	NULL		0.567	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	protein_coding	OTTHUMT00000077676.2	G	NM_022760	-		2819117	-1	no_errors	ENST00000360652	ensembl	human	known	74_37	missense	SNP	1.000	A
PTPRG	5793	genome.wustl.edu	37	3	62189327	62189327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:62189327C>T	ENST00000474889.1	+	12	2235	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q620*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	620					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGAGCGGAATCAGACGGAGCC	0.622																																																	0								ENSG00000144724						75.0	52.0	60.0					3																	62189327		2180	4271	6451	PTPRG	SO:0001587	stop_gained	0			-	HGNC	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1858C>T	3.37:g.62189327C>T	ENSP00000418112:p.Gln620*	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.Q620*	ENST00000474889.1	37	c.1858	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	C	38	6.979258	0.97979	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	.	.	.	4.39	0.847	0.18961	.	1.148540	0.06246	N	0.691249	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.3743	0.11263	0.1998:0.5661:0.1446:0.0895	.	.	.	.	X	620	.	ENSP00000295874:Q620X	Q	+	1	0	PTPRG	62164367	0.001000	0.12720	0.000000	0.03702	0.013000	0.08279	0.813000	0.27225	0.407000	0.25591	0.591000	0.81541	CAG	-	NULL		0.622	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	protein_coding	OTTHUMT00000351674.1	C	NM_002841	-		62189327	+1	no_errors	ENST00000474889	ensembl	human	known	74_37	nonsense	SNP	0.000	T
OR51B6	390058	genome.wustl.edu	37	11	5373381	5373381	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5373381C>T	ENST00000380219.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	215					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTTTTCTCCTACATTTTG	0.453																																																	0								ENSG00000176239						207.0	186.0	194.0					11																	5373381		2201	4297	6498	OR51B6	SO:0001583	missense	0			-	HGNC		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.644C>T	11.37:g.5373381C>T	ENSP00000369568:p.Ser215Phe	Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	p.S215F	ENST00000380219.1	37	c.644	CCDS31379.1	11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.283317	0.59867	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.42513	0.97	5.15	5.15	0.70609	GPCR, rhodopsin-like superfamily (1);	0.122715	0.37304	N	0.002142	T	0.77572	0.4150	H	0.97415	4	0.47819	D	0.999526	D	0.89917	1.0	D	0.87578	0.998	D	0.85764	0.1351	10	0.87932	D	0	.	17.3457	0.87309	0.0:1.0:0.0:0.0	.	215	Q9H340	O51B6_HUMAN	F	214;215	ENSP00000369568:S215F	ENSP00000369568:S215F	S	+	2	0	OR51B6	5329957	0.998000	0.40836	0.420000	0.26596	0.474000	0.32979	5.427000	0.66483	2.672000	0.90937	0.557000	0.71058	TCC	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.453	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B6	protein_coding	OTTHUMT00000142960.1	C	NM_001004750	-		5373381	+1	no_errors	ENST00000380219	ensembl	human	known	74_37	missense	SNP	1.000	T
GPR116	221395	genome.wustl.edu	37	6	46826828	46826828	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:46826828T>C	ENST00000283296.7	-	17	3100	c.2812A>G	c.(2812-2814)Att>Gtt	p.I938V	GPR116_ENST00000456426.2_Missense_Mutation_p.I796V|GPR116_ENST00000362015.4_Missense_Mutation_p.I938V|GPR116_ENST00000545669.1_Missense_Mutation_p.I367V|GPR116_ENST00000265417.7_Missense_Mutation_p.I938V	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	938					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GTCATTGAAATCCTGAATGGC	0.478																																					NSCLC(59;410 1274 8751 36715 50546)												0								ENSG00000069122						120.0	109.0	113.0					6																	46826828		2203	4300	6503	GPR116	SO:0001583	missense	0			-	HGNC	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2812A>G	6.37:g.46826828T>C	ENSP00000283296:p.Ile938Val	Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	12	55.56	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.I938V	ENST00000283296.7	37	c.2812	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	T	12.30	1.896026	0.33442	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000545557;ENST00000265417;ENST00000545669	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000012	T	0.34890	0.0913	L	0.49126	1.545	0.23376	N	0.997807	P;P;P;P;P	0.49358	0.923;0.772;0.849;0.711;0.849	P;B;B;P;B	0.51297	0.47;0.412;0.316;0.665;0.316	T	0.18650	-1.0330	10	0.33141	T	0.24	-23.2718	9.7574	0.40510	0.0:0.0771:0.0:0.9229	.	367;493;938;796;938	F5GWK9;B4DTV3;E9PBS6;Q8IZF2-3;Q8IZF2	.;.;.;.;GP116_HUMAN	V	938;938;938;796;309;938;367	ENSP00000283296:I938V;ENSP00000354563:I938V;ENSP00000412866:I796V;ENSP00000265417:I938V;ENSP00000441581:I367V	ENSP00000265417:I938V	I	-	1	0	GPR116	46934787	0.971000	0.33674	0.319000	0.25293	0.753000	0.42808	1.756000	0.38390	2.010000	0.58986	0.454000	0.30748	ATT	-	NULL		0.478	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	protein_coding	OTTHUMT00000040806.2	T	NM_015234	-		46826828	-1	no_errors	ENST00000265417	ensembl	human	known	74_37	missense	SNP	0.389	C
NF1	4763	genome.wustl.edu	37	17	29588840	29588840	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29588840C>T	ENST00000358273.4	+	35	5072	c.4689C>T	c.(4687-4689)aaC>aaT	p.N1563N	NF1_ENST00000356175.3_Silent_p.N1542N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1563					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAGCCTTAACCTTACCAGTT	0.433			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)						ENSG00000196712						88.0	79.0	82.0					17																	29588840		2203	4300	6503	NF1	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4689C>T	17.37:g.29588840C>T		Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.N1563	ENST00000358273.4	37	c.4689	CCDS42292.1	17																																																																																			-	superfamily_ARM-type_fold		0.433	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267	-		29588840	+1	no_errors	ENST00000358273	ensembl	human	known	74_37	silent	SNP	0.994	T
NUP54	53371	genome.wustl.edu	37	4	77038823	77038823	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:77038823G>A	ENST00000264883.3	-	11	1529	c.1389C>T	c.(1387-1389)atC>atT	p.I463I	NUP54_ENST00000342467.6_Silent_p.I247I|NUP54_ENST00000458189.2_Silent_p.I283I|NUP54_ENST00000514987.1_Silent_p.I415I	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	463					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTACCTGCTTGATTTCTCGTA	0.378																																																	0								ENSG00000138750						112.0	103.0	106.0					4																	77038823		2203	4300	6503	NUP54	SO:0001819	synonymous_variant	0			-	HGNC	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.1389C>T	4.37:g.77038823G>A		Somatic	0	35	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I463	ENST00000264883.3	37	c.1389	CCDS3576.1	4																																																																																			-	NULL		0.378	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	protein_coding	OTTHUMT00000252402.3	G		-		77038823	-1	no_errors	ENST00000264883	ensembl	human	known	74_37	silent	SNP	1.000	A
PEX1	5189	genome.wustl.edu	37	7	92119193	92119193	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:92119193C>T	ENST00000248633.4	-	22	3566	c.3471G>A	c.(3469-3471)atG>atA	p.M1157I	PEX1_ENST00000438045.1_Missense_Mutation_p.M835I|PEX1_ENST00000428214.1_Missense_Mutation_p.M1100I|AC007566.10_ENST00000427458.1_RNA|AC007566.10_ENST00000441539.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	1157					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			AATCCTGAGTCATGGAGCTTG	0.453																																																	0								ENSG00000127980						77.0	67.0	71.0					7																	92119193		2203	4300	6503	PEX1	SO:0001583	missense	0			-	HGNC	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.3471G>A	7.37:g.92119193C>T	ENSP00000248633:p.Met1157Ile	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	5	70.59	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase	p.M1157I	ENST00000248633.4	37	c.3471	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	C	3.755	-0.050884	0.07407	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;D	0.94092	-3.29;-3.31;-3.35	5.87	1.33	0.21861	.	0.860044	0.10783	N	0.634633	T	0.73273	0.3566	N	0.01352	-0.895	0.20403	N	0.999906	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.66822	-0.5826	10	0.06891	T	0.86	-1.4234	0.5561	0.00671	0.175:0.3116:0.1704:0.343	.	835;949;1157	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	I	835;1157;1100	ENSP00000410438:M835I;ENSP00000248633:M1157I;ENSP00000394413:M1100I	ENSP00000248633:M1157I	M	-	3	0	PEX1	91957129	0.510000	0.26171	0.990000	0.47175	0.859000	0.49053	0.091000	0.15046	0.825000	0.34637	0.650000	0.86243	ATG	-	NULL		0.453	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	protein_coding	OTTHUMT00000254066.3	C	NM_000466	-		92119193	-1	no_errors	ENST00000248633	ensembl	human	known	74_37	missense	SNP	0.176	T
GALNTL5	168391	genome.wustl.edu	37	7	151704932	151704932	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:151704932G>A	ENST00000392800.2	+	7	1183	c.929G>A	c.(928-930)gGa>gAa	p.G310E	GALNTL5_ENST00000431418.2_Missense_Mutation_p.G310E|GALNTL5_ENST00000483959.1_3'UTR	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	310	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		ATGTCTGGAGGAATTTTTGCT	0.328																																																	0								ENSG00000106648						125.0	125.0	125.0					7																	151704932		2203	4300	6503	GALNTL5	SO:0001583	missense	0			-	HGNC	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.929G>A	7.37:g.151704932G>A	ENSP00000376548:p.Gly310Glu	Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	20	31.03	Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_trans_2	p.G310E	ENST00000392800.2	37	c.929	CCDS5929.1	7	.	.	.	.	.	.	.	.	.	.	G	22.1	4.246026	0.80024	.	.	ENSG00000106648	ENST00000431418;ENST00000392800	T;T	0.62364	0.03;0.03	4.68	3.78	0.43462	.	0.000000	0.36665	N	0.002466	D	0.84982	0.5593	H	0.97707	4.06	0.51482	D	0.999924	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.89167	0.3534	10	0.87932	D	0	.	12.3851	0.55328	0.0832:0.0:0.9168:0.0	.	61;310	A8MZD3;Q7Z4T8	.;GLTL5_HUMAN	E	310	ENSP00000392582:G310E;ENSP00000376548:G310E	ENSP00000376548:G310E	G	+	2	0	GALNTL5	151335865	1.000000	0.71417	0.981000	0.43875	0.965000	0.64279	6.502000	0.73695	2.438000	0.82558	0.632000	0.83419	GGA	-	NULL		0.328	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL5	protein_coding	OTTHUMT00000348395.1	G	NM_145292	-		151704932	+1	no_errors	ENST00000392800	ensembl	human	known	74_37	missense	SNP	0.995	A
HAS1	3036	genome.wustl.edu	37	19	52217193	52217193	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52217193G>A	ENST00000222115.1	-	5	1258	c.1224C>T	c.(1222-1224)tcC>tcT	p.S408S	HAS1_ENST00000601714.1_Silent_p.S415S|HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000540069.2_Silent_p.S407S	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	408					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GGAACAGGCCGGAGACCACCG	0.662																																					NSCLC(132;636 2450 45807 47979)												0								ENSG00000105509																																			HAS1	SO:0001819	synonymous_variant	0			-	HGNC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1224C>T	19.37:g.52217193G>A		Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q14470|Q9NS49	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.S415	ENST00000222115.1	37	c.1245	CCDS12838.1	19																																																																																			-	NULL		0.662	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	protein_coding	OTTHUMT00000466953.1	G	NM_001523	-		52217193	-1	no_errors	ENST00000601714	ensembl	human	known	74_37	silent	SNP	0.970	A
U2AF2	11338	genome.wustl.edu	37	19	56180472	56180472	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:56180472G>A	ENST00000308924.4	+	10	1009	c.969G>A	c.(967-969)atG>atA	p.M323I	U2AF2_ENST00000590551.1_Missense_Mutation_p.M159I|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000450554.2_Missense_Mutation_p.M323I|CTD-2537I9.12_ENST00000585940.1_RNA|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	323	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TGAACGGCATGCAGCTGGGGG	0.652																																																	0								ENSG00000063244						39.0	39.0	39.0					19																	56180472		2203	4300	6503	U2AF2	SO:0001583	missense	0			-	HGNC	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.969G>A	19.37:g.56180472G>A	ENSP00000307863:p.Met323Ile	Somatic	0	139	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	58	25.64	Q96HC5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg	p.M323I	ENST00000308924.4	37	c.969	CCDS12933.1	19	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638527	0.87760	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	T;T	0.15372	2.43;2.43	3.63	3.63	0.41609	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.28433	0.0703	L	0.28504	0.86	0.80722	D	1	D;P	0.76494	0.999;0.947	D;P	0.87578	0.998;0.756	T	0.03025	-1.1081	10	0.37606	T	0.19	-25.8126	14.6193	0.68572	0.0:0.0:1.0:0.0	.	323;323	P26368;P26368-2	U2AF2_HUMAN;.	I	323	ENSP00000307863:M323I;ENSP00000388475:M323I	ENSP00000307863:M323I	M	+	3	0	U2AF2	60872284	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.789000	0.91839	2.054000	0.61138	0.591000	0.81541	ATG	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_U2AF_lg		0.652	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	U2AF2	protein_coding	OTTHUMT00000453599.1	G	NM_007279	-		56180472	+1	no_errors	ENST00000308924	ensembl	human	known	74_37	missense	SNP	1.000	A
GOLGA4	2803	genome.wustl.edu	37	3	37366733	37366733	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:37366733C>T	ENST00000361924.2	+	14	3730	c.3356C>T	c.(3355-3357)tCt>tTt	p.S1119F	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.S1141F	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1119	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AAGCAGAAGTCTGCCCATGTG	0.358																																																	0								ENSG00000144674						50.0	49.0	49.0					3																	37366733		2202	4297	6499	GOLGA4	SO:0001583	missense	0			-	HGNC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.3356C>T	3.37:g.37366733C>T	ENSP00000354486:p.Ser1119Phe	Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	50.00	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP	p.S1119F	ENST00000361924.2	37	c.3356	CCDS2666.1	3	.	.	.	.	.	.	.	.	.	.	C	10.51	1.370508	0.24771	.	.	ENSG00000144674	ENST00000361924;ENST00000356847;ENST00000437131	T;T;T	0.25579	1.8;1.79;1.8	5.42	3.57	0.40892	.	0.226767	0.22895	N	0.054321	T	0.27900	0.0687	L	0.53249	1.67	0.20074	N	0.999937	P;P;P;P	0.45474	0.859;0.773;0.603;0.716	P;P;B;B	0.45610	0.487;0.487;0.387;0.392	T	0.10543	-1.0625	10	0.62326	D	0.03	.	7.7587	0.28940	0.0:0.5933:0.3039:0.1029	.	1119;1119;1141;1119	Q13439-3;Q13439-4;F8W8Q7;Q13439	.;.;.;GOGA4_HUMAN	F	1119;1141;990	ENSP00000354486:S1119F;ENSP00000349305:S1141F;ENSP00000405842:S990F	ENSP00000349305:S1141F	S	+	2	0	GOLGA4	37341737	0.999000	0.42202	0.823000	0.32752	0.193000	0.23685	2.958000	0.49145	0.626000	0.30322	-0.176000	0.13171	TCT	-	NULL		0.358	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	protein_coding	OTTHUMT00000253339.2	C	NM_002078	-		37366733	+1	no_errors	ENST00000361924	ensembl	human	known	74_37	missense	SNP	0.359	T
OR13C8	138802	genome.wustl.edu	37	9	107331952	107331952	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:107331952C>T	ENST00000335040.1	+	1	504	c.504C>T	c.(502-504)ttC>ttT	p.F168F		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	168						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F168L(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGTTACCATTCTGTGCTAATA	0.448																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000186943						140.0	133.0	135.0					9																	107331952		2203	4300	6503	OR13C8	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.504C>T	9.37:g.107331952C>T		Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	Q5VVG0|Q96R44	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F168	ENST00000335040.1	37	c.504	CCDS35090.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.448	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13C8	protein_coding	OTTHUMT00000053480.1	C		-		107331952	+1	no_errors	ENST00000335040	ensembl	human	known	74_37	silent	SNP	0.999	T
WASF3	10810	genome.wustl.edu	37	13	27246073	27246073	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:27246073G>A	ENST00000335327.5	+	6	665	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	WASF3_ENST00000361042.4_Missense_Mutation_p.E163K|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	163					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCTCTGGAAAGAAAAAATGCT	0.373																																																	0								ENSG00000132970						79.0	77.0	78.0					13																	27246073		2203	4299	6502	WASF3	SO:0001583	missense	0			-	HGNC	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.487G>A	13.37:g.27246073G>A	ENSP00000335055:p.Glu163Lys	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	10	56.52	O94974|Q86VQ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E163K	ENST00000335327.5	37	c.487	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	G	33	5.270600	0.95429	.	.	ENSG00000132970	ENST00000361042;ENST00000335327	T;T	0.43294	1.11;0.95	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.54902	0.1887	M	0.65975	2.015	0.80722	D	1	P;B	0.44816	0.844;0.235	P;B	0.49683	0.619;0.199	T	0.56245	-0.8011	10	0.46703	T	0.11	-29.8277	18.6083	0.91275	0.0:0.0:1.0:0.0	.	163;163	Q86VQ2;Q9UPY6	.;WASF3_HUMAN	K	163	ENSP00000354325:E163K;ENSP00000335055:E163K	ENSP00000335055:E163K	E	+	1	0	WASF3	26144073	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.236000	0.95360	2.403000	0.81681	0.650000	0.86243	GAA	-	NULL		0.373	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	protein_coding	OTTHUMT00000044258.1	G		-		27246073	+1	no_errors	ENST00000335327	ensembl	human	known	74_37	missense	SNP	1.000	A
P2RX2	22953	genome.wustl.edu	37	12	133196052	133196052	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:133196052C>T	ENST00000389110.3	+	2	238	c.201C>T	c.(199-201)taC>taT	p.Y67Y	P2RX2_ENST00000343948.4_Silent_p.Y67Y|P2RX2_ENST00000348800.5_Silent_p.Y67Y|P2RX2_ENST00000352418.4_Missense_Mutation_p.P45S|P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000350048.5_Silent_p.Y67Y|P2RX2_ENST00000449132.2_Silent_p.Y67Y	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	67					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of hypoxic conditions in blood by carotid body chemoreceptor signaling (GO:0003029)|ion transmembrane transport (GO:0034220)|neuromuscular junction development (GO:0007528)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to hypoxia (GO:0001666)|sensory perception of sound (GO:0007605)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|urinary bladder smooth muscle contraction (GO:0014832)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadmium ion binding (GO:0046870)|cobalt ion binding (GO:0050897)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|ligand-gated ion channel activity (GO:0015276)|mercury ion binding (GO:0045340)|nickel cation binding (GO:0016151)|phosphatidylinositol binding (GO:0035091)|purinergic nucleotide receptor activity (GO:0001614)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGAAAAGCTACCAGGAGAGCG	0.657																																																	0								ENSG00000187848						84.0	82.0	83.0					12																	133196052		2203	4300	6503	P2RX2	SO:0001819	synonymous_variant	0			-	HGNC	AF109387	CCDS31930.1, CCDS31931.1, CCDS31932.1, CCDS31933.1, CCDS31934.1, CCDS31935.1, CCDS61286.1, CCDS73548.1	12q24.33	2013-03-22			ENSG00000187848	ENSG00000187848		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	15459	protein-coding gene	gene with protein product		600844	"""deafness, autosomal dominant 41"""	DFNA41		10570044, 7523952, 23345450	Standard	XM_005266154		Approved	P2X2	uc001ukk.1	Q9UBL9	OTTHUMG00000168018	ENST00000389110.3:c.201C>T	12.37:g.133196052C>T		Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A6NGB4|A6NH93|A6NHC2|A6NHU3|A6NIG9|Q6V9R6|Q9NR37|Q9NR38|Q9UHD5|Q9UHD6|Q9UHD7|Q9Y637|Q9Y638	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_P2X_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.P45S	ENST00000389110.3	37	c.133	CCDS31931.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.113710|2.113710	0.37339|0.37339	.|.	.|.	ENSG00000187848|ENSG00000187848	ENST00000352418|ENST00000542301;ENST00000536121;ENST00000535910	T|.	0.05996|.	3.36|.	4.44|4.44	2.15|2.15	0.27550|0.27550	.|.	.|.	.|.	.|.	.|.	T|T	0.58148|0.58148	0.2102|0.2102	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B|.	0.26483|.	0.15|.	B|.	0.23150|.	0.044|.	T|T	0.53718|0.53718	-0.8399|-0.8399	8|4	0.33940|.	T|.	0.23|.	-26.3386|-26.3386	9.2294|9.2294	0.37428|0.37428	0.0:0.7157:0.0:0.2843|0.0:0.7157:0.0:0.2843	.|.	45|.	Q9UBL9-6|.	.|.	S|I	45|78;53;23	ENSP00000341419:P45S|.	ENSP00000341419:P45S|.	P|T	+|+	1|2	0|0	P2RX2|P2RX2	131706125|131706125	0.988000|0.988000	0.35896|0.35896	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	0.642000|0.642000	0.24735|0.24735	0.838000|0.838000	0.34948|0.34948	0.505000|0.505000	0.49811|0.49811	CCA|ACC	-	NULL		0.657	P2RX2-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	P2RX2	protein_coding	OTTHUMT00000397542.1	C		-		133196052	+1	no_errors	ENST00000352418	ensembl	human	known	74_37	missense	SNP	1.000	T
LELP1	149018	genome.wustl.edu	37	1	153177421	153177421	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153177421C>T	ENST00000368747.1	+	2	348	c.238C>T	c.(238-240)Cct>Tct	p.P80S		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	80	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCCTGTCCTCCTAAATGCCC	0.642																																																	0								ENSG00000203784						109.0	87.0	95.0					1																	153177421		2203	4300	6503	LELP1	SO:0001583	missense	0			-	HGNC		CCDS30869.1	1q21.3	2008-02-05			ENSG00000203784	ENSG00000203784			32046	protein-coding gene	gene with protein product		611042					Standard	NM_001010857		Approved		uc001fbl.4	Q5T871	OTTHUMG00000013935	ENST00000368747.1:c.238C>T	1.37:g.153177421C>T	ENSP00000357736:p.Pro80Ser	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	A1L4E1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P80S	ENST00000368747.1	37	c.238	CCDS30869.1	1	.	.	.	.	.	.	.	.	.	.	C	7.270	0.606997	0.14002	.	.	ENSG00000203784	ENST00000368747	.	.	.	4.41	2.54	0.30619	.	0.318640	0.22816	N	0.055288	T	0.10423	0.0255	.	.	.	0.09310	N	1	B	0.19583	0.037	B	0.23275	0.045	T	0.29518	-1.0009	8	0.24483	T	0.36	-4.2907	6.8321	0.23915	0.0:0.7868:0.0:0.2132	.	80	Q5T871	LELP1_HUMAN	S	80	.	ENSP00000357736:P80S	P	+	1	0	LELP1	151444045	0.052000	0.20516	0.000000	0.03702	0.029000	0.11900	1.063000	0.30567	0.510000	0.28216	0.561000	0.74099	CCT	-	NULL		0.642	LELP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LELP1	protein_coding	OTTHUMT00000039104.1	C	NM_001010857	-		153177421	+1	no_errors	ENST00000368747	ensembl	human	known	74_37	missense	SNP	0.001	T
GHSR	2693	genome.wustl.edu	37	3	172163015	172163015	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:172163015C>T	ENST00000241256.2	-	2	1079	c.1037G>A	c.(1036-1038)aGa>aAa	p.R346K		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	346					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GGAGAGCTTTCTCTGGGAGAA	0.473																																					Esophageal Squamous(93;641 1401 20883 29581 34638)												0								ENSG00000121853						87.0	96.0	93.0					3																	172163015		2203	4300	6503	GHSR	SO:0001583	missense	0			-	HGNC	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.1037G>A	3.37:g.172163015C>T	ENSP00000241256:p.Arg346Lys	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GHS-R,prints_GPCR_Rhodpsn	p.R346K	ENST00000241256.2	37	c.1037	CCDS3218.1	3	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780450	0.49891	.	.	ENSG00000121853	ENST00000241256	T	0.36157	1.27	5.91	5.03	0.67393	.	0.217035	0.47455	D	0.000223	T	0.14570	0.0352	N	0.05199	-0.095	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.23084	-1.0198	10	0.10902	T	0.67	-16.7452	5.6827	0.17784	0.0:0.744:0.0:0.256	.	346	Q92847	GHSR_HUMAN	K	346	ENSP00000241256:R346K	ENSP00000241256:R346K	R	-	2	0	GHSR	173645709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.440000	0.44855	2.791000	0.96007	0.650000	0.86243	AGA	-	prints_GHS-R		0.473	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHSR	protein_coding	OTTHUMT00000346728.1	C	NM_004122	-		172163015	-1	no_errors	ENST00000241256	ensembl	human	known	74_37	missense	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113299424	113299424	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:113299424C>T	ENST00000297405.5	-	58	9444	c.9200G>A	c.(9199-9201)aGa>aAa	p.R3067K	CSMD3_ENST00000455883.2_Missense_Mutation_p.R2898K|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2997K|CSMD3_ENST00000343508.3_Missense_Mutation_p.R3027K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3067	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCTTTCCTGTCTAGAGCCATG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						143.0	125.0	131.0					8																	113299424		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9200G>A	8.37:g.113299424C>T	ENSP00000297405:p.Arg3067Lys	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	Q96PZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R3067K	ENST00000297405.5	37	c.9200	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.122361	0.94429	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86	5.26	5.26	0.73747	Complement control module (2);Sushi/SCR/CCP (3);	0.123227	0.51477	D	0.000093	T	0.32194	0.0821	L	0.46157	1.445	0.53688	D	0.999973	B;B;P	0.36125	0.342;0.008;0.538	B;B;B	0.42495	0.237;0.1;0.389	T	0.02104	-1.1213	10	0.28530	T	0.3	.	19.229	0.93829	0.0:1.0:0.0:0.0	.	2898;3067;3027	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	3027;3067;2337;2898;2997	ENSP00000345799:R3027K;ENSP00000297405:R3067K;ENSP00000341558:R2337K;ENSP00000412263:R2898K;ENSP00000343124:R2997K	ENSP00000297405:R3067K	R	-	2	0	CSMD3	113368600	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	7.583000	0.82559	2.618000	0.88619	0.650000	0.86243	AGA	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113299424	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	T
LTBP1	4052	genome.wustl.edu	37	2	33525536	33525536	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:33525536A>C	ENST00000404816.2	+	21	3607	c.3254A>C	c.(3253-3255)cAa>cCa	p.Q1085P	LTBP1_ENST00000272273.5_Missense_Mutation_p.Q25P|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q706P|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q760P|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1086P|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q759P|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q706P|LTBP1_ENST00000418533.2_Missense_Mutation_p.Q759P			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1085	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GAATGTCAGCAAGGGAATCTA	0.483																																																	0								ENSG00000049323						109.0	110.0	110.0					2																	33525536		2203	4300	6503	LTBP1	SO:0001583	missense	0			-	HGNC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3254A>C	2.37:g.33525536A>C	ENSP00000386043:p.Gln1085Pro	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	26	29.73	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.Q1086P	ENST00000404816.2	37	c.3257	CCDS33177.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.08|11.08	1.534365|1.534365	0.27475|0.27475	.|.	.|.	ENSG00000049323|ENSG00000049323	ENST00000415140|ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	.|D;D;D;D;D;D;D;D	.|0.92348	.|-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02;-3.02	5.39|5.39	4.16|4.16	0.48862|0.48862	.|EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|.	.|.	.|.	.|.	D|D	0.86460|0.86460	0.5938|0.5938	N|N	0.17312|0.17312	0.475|0.475	0.31777|0.31777	N|N	0.631366|0.631366	.|B;P;P;B;B;P;P	.|0.38455	.|0.047;0.495;0.632;0.278;0.446;0.579;0.572	.|B;B;B;B;B;B;P	.|0.45971	.|0.084;0.366;0.26;0.15;0.169;0.169;0.499	D|D	0.84310|0.84310	0.0510|0.0510	5|9	.|0.33141	.|T	.|0.24	.|.	6.017|6.017	0.19608|0.19608	0.7491:0.1667:0.0842:0.0|0.7491:0.1667:0.0842:0.0	.|.	.|25;1085;759;706;759;760;1086	.|E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.|.;LTBP1_HUMAN;.;.;.;.;.	Q|P	47|1085;1086;760;759;706;706;759;25	.|ENSP00000386043:Q1085P;ENSP00000346467:Q1086P;ENSP00000374653:Q760P;ENSP00000393057:Q759P;ENSP00000384373:Q706P;ENSP00000385359:Q706P;ENSP00000384091:Q759P;ENSP00000272273:Q25P	.|ENSP00000272273:Q25P	K|Q	+|+	1|2	0|0	LTBP1|LTBP1	33379040|33379040	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.751000|0.751000	0.42716|0.42716	1.874000|1.874000	0.39568|0.39568	2.049000|2.049000	0.60858|0.60858	0.454000|0.454000	0.30748|0.30748	AAG|CAA	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.483	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	protein_coding	OTTHUMT00000326227.2	A	NM_206943	-		33525536	+1	no_errors	ENST00000354476	ensembl	human	known	74_37	missense	SNP	1.000	C
DSCAML1	57453	genome.wustl.edu	37	11	117392047	117392047	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:117392047G>A	ENST00000321322.6	-	6	1192	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	DSCAML1_ENST00000527706.1_Silent_p.A127A	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	337	Ig-like C2-type 4.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCCCGTCAGGGCACAGGAGA	0.637																																																	0								ENSG00000177103						57.0	51.0	53.0					11																	117392047		2201	4296	6497	DSCAML1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.1191C>T	11.37:g.117392047G>A		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	27	22.86	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A397	ENST00000321322.6	37	c.1191	CCDS8384.1	11																																																																																			-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	protein_coding	OTTHUMT00000392907.2	G	NM_020693	-		117392047	-1	no_errors	ENST00000321322	ensembl	human	known	74_37	silent	SNP	0.954	A
SLA	6503	genome.wustl.edu	37	8	134050963	134050963	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:134050963C>T	ENST00000338087.5	-	9	1456	c.637G>A	c.(637-639)Gga>Aga	p.G213R	SLA_ENST00000517648.1_Missense_Mutation_p.G186R|SLA_ENST00000427060.2_Missense_Mutation_p.G253R|TG_ENST00000542445.1_Intron|SLA_ENST00000524345.1_Missense_Mutation_p.G105R|TG_ENST00000377869.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.G230R|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	213	SLA C-terminal.				positive regulation of signal transduction (GO:0009967)	endosome (GO:0005768)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTCTGTTCCCTCGGGGTCC	0.522																																																	0								ENSG00000155926						65.0	62.0	63.0					8																	134050963		2203	4300	6503	SLA	SO:0001583	missense	0			-	HGNC		CCDS6370.1, CCDS47922.1, CCDS47923.1, CCDS64977.1, CCDS64978.1	8q24.22	2013-09-19	2001-11-28		ENSG00000155926	ENSG00000155926		"""SH2 domain containing"""	10902	protein-coding gene	gene with protein product		601099	"""Src-like-adapter"""			8825655, 11179692	Standard	NM_001045556		Approved	SLA1	uc011ljd.2	Q13239	OTTHUMG00000164439	ENST00000338087.5:c.637G>A	8.37:g.134050963C>T	ENSP00000337548:p.Gly213Arg	Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	19	52.50	B7Z4J2|B7Z4L6|Q6FI01|Q9UMQ8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2	p.G253R	ENST00000338087.5	37	c.757	CCDS6370.1	8	.	.	.	.	.	.	.	.	.	.	C	10.11	1.261129	0.23051	.	.	ENSG00000155926	ENST00000338087;ENST00000427060;ENST00000395352;ENST00000524345;ENST00000517648	T;T;T;T;T	0.77358	-1.09;-1.02;-1.04;1.23;2.46	5.81	5.81	0.92471	.	0.606330	0.17412	N	0.175142	T	0.74084	0.3670	L	0.56769	1.78	0.09310	N	0.999999	P;P;P;P	0.42735	0.744;0.788;0.788;0.788	B;B;B;B	0.36666	0.23;0.165;0.165;0.165	T	0.67673	-0.5610	10	0.21540	T	0.41	-9.2632	18.652	0.91433	0.0:1.0:0.0:0.0	.	186;213;213;213	B7Z4J2;Q6FI01;Q5TZW1;Q13239	.;.;.;SLAP1_HUMAN	R	213;253;230;105;186	ENSP00000337548:G213R;ENSP00000394049:G253R;ENSP00000378759:G230R;ENSP00000427928:G105R;ENSP00000428559:G186R	ENSP00000337548:G213R	G	-	1	0	SLA	134120145	0.062000	0.20869	0.034000	0.17996	0.013000	0.08279	1.548000	0.36201	2.746000	0.94184	0.655000	0.94253	GGA	-	NULL		0.522	SLA-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SLA	protein_coding	OTTHUMT00000378771.1	C		-		134050963	-1	no_errors	ENST00000427060	ensembl	human	known	74_37	missense	SNP	0.124	T
KAZALD1	81621	genome.wustl.edu	37	10	102824587	102824587	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:102824587G>A	ENST00000370200.5	+	5	1151	c.825G>A	c.(823-825)caG>caA	p.Q275Q		NM_030929.4	NP_112191.2	Q96I82	KAZD1_HUMAN	Kazal-type serine peptidase inhibitor domain 1	275					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|regulation of cell growth (GO:0001558)	interstitial matrix (GO:0005614)				endometrium(1)|ovary(1)|prostate(2)	4				Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		TTGCAGACCAGCTGAACTCTA	0.532																																																	0								ENSG00000107821						83.0	82.0	83.0					10																	102824587		2203	4300	6503	KAZALD1	SO:0001819	synonymous_variant	0			-	HGNC	AF333487	CCDS7509.1	10q24.32	2013-01-11	2005-08-17		ENSG00000107821	ENSG00000107821		"""Immunoglobulin superfamily / I-set domain containing"""	25460	protein-coding gene	gene with protein product		609208	"""Kazal-type serine protease inhibitor domain 1"""			12975309	Standard	NM_030929		Approved	FKSG40, FKSG28	uc001ksr.3	Q96I82	OTTHUMG00000018918	ENST00000370200.5:c.825G>A	10.37:g.102824587G>A		Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	D3DR74|Q6ZMB1|Q9BQ73	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom	p.Q275	ENST00000370200.5	37	c.825	CCDS7509.1	10																																																																																			-	pirsf_IGFBP_rP_mac25		0.532	KAZALD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZALD1	protein_coding	OTTHUMT00000049891.2	G	NM_030929	-		102824587	+1	no_errors	ENST00000370200	ensembl	human	known	74_37	silent	SNP	1.000	A
FILIP1	27145	genome.wustl.edu	37	6	76017816	76017816	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:76017816C>T	ENST00000237172.7	-	0	4563				FILIP1_ENST00000393004.2_Intron|FILIP1_ENST00000370020.1_3'UTR|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1											breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCCATATTTCATTTCCATTT	0.343																																																	0								ENSG00000118407																																			FILIP1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.*591G>A	6.37:g.76017816C>T		Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	17	37.04	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000237172.7	37	NULL	CCDS4984.1	6																																																																																			-	-		0.343	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	protein_coding	OTTHUMT00000041263.1	C	XM_029179	-		76017816	-1	no_errors	ENST00000498523	ensembl	human	known	74_37	rna	SNP	0.995	T
PACS2	23241	genome.wustl.edu	37	14	105859167	105859167	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:105859167G>A	ENST00000325438.8	+	22	2926	c.2422G>A	c.(2422-2424)Gag>Aag	p.E808K	PACS2_ENST00000430725.2_Missense_Mutation_p.E733K|PACS2_ENST00000458164.2_Missense_Mutation_p.E823K|PACS2_ENST00000547217.1_Missense_Mutation_p.E778K|PACS2_ENST00000447393.1_Missense_Mutation_p.E812K|PACS2_ENST00000551743.1_Missense_Mutation_p.E322K|PACS2_ENST00000551801.1_Missense_Mutation_p.E9K			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	808					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GGTCACCAAGGAGAAGAACAA	0.642																																																	0								ENSG00000179364						46.0	46.0	46.0					14																	105859167		2203	4299	6502	PACS2	SO:0001583	missense	0			-	HGNC	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.2422G>A	14.37:g.105859167G>A	ENSP00000321834:p.Glu808Lys	Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Phosphofurin_acidic_CS-1	p.E823K	ENST00000325438.8	37	c.2467	CCDS32168.1	14	.	.	.	.	.	.	.	.	.	.	G	30	5.053650	0.93793	.	.	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000551743;ENST00000551801	T;T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72;0.72	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	T	0.67306	0.2879	M	0.71871	2.18	0.80722	D	1	D;P;D;D	0.89917	1.0;0.845;1.0;0.998	D;P;D;D	0.97110	1.0;0.755;0.999;0.969	T	0.71241	-0.4651	10	0.56958	D	0.05	-31.5372	15.6388	0.76977	0.0:0.0:1.0:0.0	.	812;823;808;809	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	K	733;808;823;812;778;322;9	ENSP00000393524:E733K;ENSP00000321834:E808K;ENSP00000399732:E823K;ENSP00000393559:E812K;ENSP00000449525:E778K;ENSP00000449254:E322K;ENSP00000447544:E9K	ENSP00000321834:E808K	E	+	1	0	PACS2	104930212	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.626000	0.98410	2.097000	0.63578	0.462000	0.41574	GAG	-	pfam_Phosphofurin_acidic_CS-1		0.642	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	protein_coding	OTTHUMT00000409209.1	G	XM_377355	-		105859167	+1	no_errors	ENST00000458164	ensembl	human	known	74_37	missense	SNP	1.000	A
DPYD	1806	genome.wustl.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:98164976G>A	ENST00000370192.3	-	6	711	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	204					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	AGCCAAAAAGGAAGCACAACT	0.393																																																	0								ENSG00000188641						159.0	157.0	157.0					1																	98164976		2203	4300	6503	DPYD	SO:0001583	missense	0			-	HGNC	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.611C>T	1.37:g.98164976G>A	ENSP00000359211:p.Ser204Phe	Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.S204F	ENST00000370192.3	37	c.611	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555871	0.86231	.	.	ENSG00000188641	ENST00000370192	T	0.80909	-1.43	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84226	0.0464	10	0.72032	D	0.01	-16.3039	19.3869	0.94560	0.0:0.0:1.0:0.0	.	204	Q12882	DPYD_HUMAN	F	204	ENSP00000359211:S204F	ENSP00000359211:S204F	S	-	2	0	DPYD	97937564	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	9.431000	0.97494	2.591000	0.87537	0.585000	0.79938	TCC	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase		0.393	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	protein_coding	OTTHUMT00000095698.3	G	NM_000110	-		98164976	-1	no_errors	ENST00000370192	ensembl	human	known	74_37	missense	SNP	1.000	A
POLDIP2	26073	genome.wustl.edu	37	17	26679948	26679948	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:26679948G>A	ENST00000540200.1	-	7	608	c.609C>T	c.(607-609)gaC>gaT	p.D203D	POLDIP2_ENST00000003607.4_5'UTR	NM_015584.3	NP_056399.1	Q9Y2S7	PDIP2_HUMAN	polymerase (DNA-directed), delta interacting protein 2	204					mitochondrion morphogenesis (GO:0070584)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)					all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CTTTTGTCTGGTCATACAGAA	0.473																																																	0								ENSG00000004142						68.0	67.0	67.0					17																	26679948		1854	4096	5950	POLDIP2	SO:0001819	synonymous_variant	0			-	HGNC	AF077203	CCDS74018.1	17q11.2	2008-02-05			ENSG00000004142	ENSG00000004142			23781	protein-coding gene	gene with protein product		611519				12522211	Standard	NM_015584		Approved	PDIP38, DKFZP586F1524	uc002haz.3	Q9Y2S7	OTTHUMG00000132065	ENST00000540200.1:c.609C>T	17.37:g.26679948G>A		Somatic	0	104	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20	B2R846|Q96JE4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ApaG_domain,pfam_Hemimethylated_DNA-bd_dom,superfamily_ApaG_domain,superfamily_Hemimethylated_DNA-bd_dom,pfscan_ApaG_domain	p.D203	ENST00000540200.1	37	c.609		17																																																																																			-	NULL		0.473	POLDIP2-201	KNOWN	basic|appris_principal	protein_coding	POLDIP2	protein_coding		G	NM_015584	-		26679948	-1	no_errors	ENST00000540200	ensembl	human	known	74_37	silent	SNP	1.000	A
DNAH5	1767	genome.wustl.edu	37	5	13727761	13727761	+	Missense_Mutation	SNP	G	G	A	rs191057833		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:13727761G>A	ENST00000265104.4	-	70	11992	c.11888C>T	c.(11887-11889)tCg>tTg	p.S3963L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3963					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCATTTCTCGATATCTGAAA	0.398									Kartagener syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		13529	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000039139						86.0	87.0	87.0					5																	13727761		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GMAF=0.0005	HGNC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11888C>T	5.37:g.13727761G>A	ENSP00000265104:p.Ser3963Leu	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	41	14.58	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.S3963L	ENST00000265104.4	37	c.11888	CCDS3882.1	5	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	18.05	3.536014	0.64972	.	.	ENSG00000039139	ENST00000265104	T	0.08720	3.06	5.49	5.49	0.81192	Dynein heavy chain (1);	0.347798	0.30911	N	0.008633	T	0.12561	0.0305	L	0.52573	1.65	0.53688	D	0.99997	B	0.24920	0.114	B	0.25291	0.059	T	0.03587	-1.1022	10	0.49607	T	0.09	.	19.3861	0.94556	0.0:0.0:1.0:0.0	.	3963	Q8TE73	DYH5_HUMAN	L	3963	ENSP00000265104:S3963L	ENSP00000265104:S3963L	S	-	2	0	DNAH5	13780761	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	5.326000	0.65875	2.594000	0.87642	0.650000	0.86243	TCG	-	pfam_Dynein_heavy_dom		0.398	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	rs191057833		13727761	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	A
FAT4	79633	genome.wustl.edu	37	4	126239533	126239533	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:126239533C>T	ENST00000394329.3	+	1	1980	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	656	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCTTCTACTCCCTGTTGGTT	0.517																																																	0								ENSG00000196159						83.0	82.0	83.0					4																	126239533		1934	4129	6063	FAT4	SO:0001583	missense	0			-	HGNC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.1967C>T	4.37:g.126239533C>T	ENSP00000377862:p.Ser656Phe	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S656F	ENST00000394329.3	37	c.1967	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	7.777	0.708692	0.15239	.	.	ENSG00000196159	ENST00000394329	T	0.01854	4.6	4.76	3.9	0.45041	Cadherin (4);Cadherin-like (1);	0.233908	0.21210	U	0.078324	T	0.04227	0.0117	L	0.41961	1.31	0.80722	D	1	B	0.32893	0.389	B	0.41299	0.353	T	0.54642	-0.8263	10	0.30078	T	0.28	.	14.6967	0.69126	0.0:0.849:0.151:0.0	.	656	Q6V0I7	FAT4_HUMAN	F	656	ENSP00000377862:S656F	ENSP00000377862:S656F	S	+	2	0	FAT4	126458983	1.000000	0.71417	0.989000	0.46669	0.968000	0.65278	3.655000	0.54460	1.183000	0.42943	0.655000	0.94253	TCC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.517	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	C	NM_024582	-		126239533	+1	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	SNP	1.000	T
XIRP2	129446	genome.wustl.edu	37	2	168107423	168107423	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:168107423C>T	ENST00000409195.1	+	9	9610	c.9521C>T	c.(9520-9522)cCa>cTa	p.P3174L	XIRP2_ENST00000295237.9_Missense_Mutation_p.P3174L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P2952L|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2999					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCCCTTCTCCACCCAGGAGT	0.493																																																	0								ENSG00000163092						85.0	84.0	85.0					2																	168107423		1907	4132	6039	XIRP2	SO:0001583	missense	0			-	HGNC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9521C>T	2.37:g.168107423C>T	ENSP00000386840:p.Pro3174Leu	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-binding_Xin_repeat	p.P3174L	ENST00000409195.1	37	c.9521	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338500	0.41398	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.22743	2.0;2.0;1.94	5.75	4.85	0.62838	.	0.255835	0.38959	N	0.001516	T	0.35128	0.0921	M	0.68952	2.095	0.58432	D	0.999996	P;P;B	0.50369	0.891;0.934;0.063	P;P;B	0.53313	0.532;0.723;0.062	T	0.12708	-1.0537	10	0.72032	D	0.01	-3.8057	11.2263	0.48886	0.0:0.9103:0.0:0.0897	.	2999;2999;2952	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	3174;3174;2952;588	ENSP00000386840:P3174L;ENSP00000295237:P3174L;ENSP00000387255:P2952L	ENSP00000295237:P3174L	P	+	2	0	XIRP2	167815669	0.997000	0.39634	0.048000	0.18961	0.262000	0.26303	4.915000	0.63355	1.379000	0.46325	0.460000	0.39030	CCA	-	NULL		0.493	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381	-		168107423	+1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.992	T
RPS6KA2	6196	genome.wustl.edu	37	6	166889259	166889259	+	Intron	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:166889259G>T	ENST00000265678.4	-	11	1131				RPS6KA2_ENST00000481261.2_Intron|RPS6KA2_ENST00000405189.3_Intron|RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000503859.1_Intron	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2						axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TGGGAGAAATGCCAGTCTTAG	0.507																																																	0								ENSG00000071242						91.0	93.0	92.0					6																	166889259		876	1991	2867	RPS6KA2	SO:0001627	intron_variant	0			-	HGNC	L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.908-5866C>A	6.37:g.166889259G>T		Somatic	1	119	0.83		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000265678.4	37	NULL	CCDS5294.1	6																																																																																			-	-		0.507	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	protein_coding	OTTHUMT00000043075.3	G	NM_021135	-		166889259	-1	no_errors	ENST00000366865	ensembl	human	known	74_37	rna	SNP	0.000	T
NOS3	4846	genome.wustl.edu	37	7	150707662	150707662	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:150707662C>T	ENST00000477227.1	+	0	42				NOS3_ENST00000297494.3_Intron|NOS3_ENST00000461406.1_Intron|ATG9B_ENST00000494791.1_5'Flank			P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)						germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGCCTCCAACCCACTGCATC	0.617																																																	0								ENSG00000164867						22.0	22.0	22.0					7																	150707662		2197	4286	6483	NOS3	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000477227.1:c.*39C>T	7.37:g.150707662C>T		Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	Q495E5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000477227.1	37	NULL		7																																																																																			-	-		0.617	NOS3-011	KNOWN	basic	processed_transcript	NOS3	protein_coding	OTTHUMT00000351574.1	C	NM_000603	-		150707662	+1	no_errors	ENST00000468293	ensembl	human	known	74_37	rna	SNP	0.000	T
ADAMTS9	56999	genome.wustl.edu	37	3	64502706	64502707	+	3'UTR	DEL	AC	AC	-	rs372944190		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:64502706_64502707delAC	ENST00000498707.1	-	0	6246_6247				ADAMTS9_ENST00000467257.1_5'UTR|ADAMTS9_ENST00000295903.4_3'UTR	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		tcacacacaaacacacacacac	0.347																																																	0								ENSG00000163638																																			ADAMTS9	SO:0001624	3_prime_UTR_variant	0				HGNC	AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.*97GT>-	3.37:g.64502716_64502717delAC		Somatic	0	25	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000498707.1	37	NULL	CCDS2903.1	3																																																																																			-	-		0.347	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	AC				64502707	-1	no_errors	ENST00000467257	ensembl	human	known	74_37	rna	DEL	0.000:0.000	-
TSPY2	64591	genome.wustl.edu	37	Y	6115641	6115641	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrY:6115641C>T	ENST00000320701.4	+	3	649	c.603C>T	c.(601-603)atC>atT	p.I201I	TSPY2_ENST00000383042.1_Silent_p.I201I	NM_022573.2	NP_072095.2	A6NKD2	TSPY2_HUMAN	testis specific protein, Y-linked 2	201					cell differentiation (GO:0030154)|gonadal mesoderm development (GO:0007506)|nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				liver(1)|lung(4)|prostate(1)|skin(1)	7						TCTGCAAGATCATGTTGTTCT	0.468																																																	0								ENSG00000168757																																			TSPY2	SO:0001819	synonymous_variant	0			-	HGNC	AF106331	CCDS35465.1	Yp11.2	2010-05-12			ENSG00000168757	ENSG00000168757			23924	protein-coding gene	gene with protein product						10773691	Standard	NM_022573		Approved	TSPYQ1	uc004fqr.1	A6NKD2	OTTHUMG00000040957	ENST00000320701.4:c.603C>T	Y.37:g.6115641C>T		Somatic	0	328	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	167	15.08		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_NAP_family	p.I201	ENST00000320701.4	37	c.603	CCDS35465.1	Y																																																																																			-	pfam_NAP_family		0.468	TSPY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSPY2	protein_coding	OTTHUMT00000098313.1	C	NM_022573	-		6115641	+1	no_errors	ENST00000320701	ensembl	human	known	74_37	silent	SNP	0.991	T
NECAB3	63941	genome.wustl.edu	37	20	32247711	32247711	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:32247711G>A	ENST00000246190.6	-	7	678	c.623C>T	c.(622-624)tCc>tTc	p.S208F	NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.S208F|RP1-63M2.6_ENST00000607224.1_RNA|C20orf144_ENST00000375222.3_5'Flank	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	208					protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			large_intestine(3)|lung(5)|skin(2)	10						AGAGCCGGGGGACCAGGTGGA	0.716																																																	0								ENSG00000125967						6.0	9.0	8.0					20																	32247711		1912	4009	5921	NECAB3	SO:0001583	missense	0			-	HGNC	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.623C>T	20.37:g.32247711G>A	ENSP00000246190:p.Ser208Phe	Somatic	0	14	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Antibiotic_mOase,pfam_EF_hand_dom,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom	p.S208F	ENST00000246190.6	37	c.623	CCDS42866.1	20	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292520	0.40594	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.25912	2.11;2.34;1.77	3.83	3.83	0.44106	.	0.528255	0.18559	N	0.137690	T	0.41050	0.1142	L	0.50333	1.59	0.34241	D	0.677687	D;D;D	0.61080	0.989;0.988;0.98	D;P;P	0.64042	0.921;0.805;0.844	T	0.55224	-0.8174	10	0.66056	D	0.02	-20.8533	11.9777	0.53103	0.0:0.0:1.0:0.0	.	85;208;208	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	F	208	ENSP00000364386:S208F;ENSP00000246190:S208F;ENSP00000392064:S208F	ENSP00000246190:S208F	S	-	2	0	NECAB3	31711372	0.998000	0.40836	0.994000	0.49952	0.036000	0.12997	4.145000	0.58065	2.076000	0.62316	0.462000	0.41574	TCC	-	NULL		0.716	NECAB3-010	KNOWN	basic|CCDS	protein_coding	NECAB3	protein_coding	OTTHUMT00000078724.2	G		-		32247711	-1	no_errors	ENST00000246190	ensembl	human	known	74_37	missense	SNP	0.998	A
MAGI2	9863	genome.wustl.edu	37	7	77807378	77807378	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:77807378C>T	ENST00000354212.4	-	14	2606	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	MAGI2_ENST00000522391.1_Missense_Mutation_p.E785K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E771K	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	785	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AATCCAGACTCCATCCTCCGA	0.468																																																	0								ENSG00000187391						99.0	93.0	95.0					7																	77807378		2203	4300	6503	MAGI2	SO:0001583	missense	0			-	HGNC	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2353G>A	7.37:g.77807378C>T	ENSP00000346151:p.Glu785Lys	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like	p.E785K	ENST00000354212.4	37	c.2353	CCDS5594.1	7	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241654	0.58995	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.39229	1.69;1.09;1.09	5.77	4.89	0.63831	PDZ/DHR/GLGF (3);	0.000000	0.36740	U	0.002436	T	0.31979	0.0814	N	0.20685	0.6	0.80722	D	1	B;P;B	0.34743	0.002;0.466;0.021	B;B;B	0.34093	0.007;0.175;0.022	T	0.14924	-1.0455	10	0.54805	T	0.06	.	17.0119	0.86408	0.0:0.8727:0.1272:0.0	.	785;771;785	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	K	771;785;785;785	ENSP00000405766:E771K;ENSP00000346151:E785K;ENSP00000428389:E785K	ENSP00000346151:E785K	E	-	1	0	MAGI2	77645314	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.037000	0.49775	1.440000	0.47531	0.650000	0.86243	GAG	-	pfam_PDZ,superfamily_PDZ,pfscan_PDZ		0.468	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGI2	protein_coding	OTTHUMT00000253197.3	C	NM_012301	-		77807378	-1	no_errors	ENST00000354212	ensembl	human	known	74_37	missense	SNP	1.000	T
MUC2	4583	genome.wustl.edu	37	11	1104068	1104068	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:1104068G>A	ENST00000441003.2	+	49	8286	c.8259G>A	c.(8257-8259)ctG>ctA	p.L2753L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5115					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCAGGCCCTGGACCACAGCT	0.677																																																	0								ENSG00000198788						15.0	20.0	18.0					11																	1104068		2033	4188	6221	MUC2	SO:0001819	synonymous_variant	0			-	HGNC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8259G>A	11.37:g.1104068G>A		Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	Q14878	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.L2753	ENST00000441003.2	37	c.8259		11																																																																																			-	smart_Cys_knot_C,pfscan_Cys_knot_C		0.677	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	protein_coding	OTTHUMT00000345894.2	G	NM_002457	-		1104068	+1	no_errors	ENST00000441003	ensembl	human	known	74_37	silent	SNP	0.881	A
SLC28A2	9153	genome.wustl.edu	37	15	45559941	45559941	+	Silent	SNP	G	G	A	rs139537844	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:45559941G>A	ENST00000347644.3	+	12	1211	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	382					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TAGCGTATCCGGAAGTGGAGG	0.547													g|||	2	0.000399361	0.0	0.0029	5008	,	,		20006	0.0		0.0	False		,,,				2504	0.0				NSCLC(92;493 1501 26361 28917 47116)												0								ENSG00000137860	A		2,4394	4.2+/-10.8	0,2,2196	141.0	144.0	143.0		1146	-0.7	1.0	15	dbSNP_134	143	0,8596		0,0,4298	no	coding-synonymous	SLC28A2	NM_004212.3		0,2,6494	AA,AG,GG		0.0,0.0455,0.0154		382/659	45559941	2,12990	2198	4298	6496	SLC28A2	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1146G>A	15.37:g.45559941G>A		Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	A8K7F9|O43239|Q52LZ0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.P382	ENST00000347644.3	37	c.1146	CCDS10121.1	15																																																																																			-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac		0.547	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A2	protein_coding	OTTHUMT00000254219.2	G	NM_004212	rs139537844		45559941	+1	no_errors	ENST00000347644	ensembl	human	known	74_37	silent	SNP	0.976	A
MS4A4A	51338	genome.wustl.edu	37	11	60068484	60068484	+	Missense_Mutation	SNP	C	C	T	rs200557697		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:60068484C>T	ENST00000337908.4	+	4	431	c.341C>T	c.(340-342)tCa>tTa	p.S114L	MS4A4A_ENST00000355131.3_Missense_Mutation_p.S95L|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S114L|MS4A4A_ENST00000395016.3_Missense_Mutation_p.S95L	NM_148975.2	NP_683876.1	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	114						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						TTTATTATTTCAGGATCCTTG	0.274																																																	0								ENSG00000110079						72.0	74.0	73.0					11																	60068484		2203	4300	6503	MS4A4A	SO:0001583	missense	0			-	HGNC	AB013102	CCDS7982.1, CCDS58135.1	11q12	2012-02-28	2012-02-28		ENSG00000110079	ENSG00000110079			13371	protein-coding gene	gene with protein product		606547	"""membrane-spanning 4-domains, subfamily A, member 4"""	MS4A4		11245982, 11401424	Standard	NM_148975		Approved	CD20L1, MS4A7	uc001noz.3	Q96JQ5	OTTHUMG00000154949	ENST00000337908.4:c.341C>T	11.37:g.60068484C>T	ENSP00000338648:p.Ser114Leu	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	33	17.50	Q8TEZ6|Q96PG7|Q9BY18|Q9H3V3|Q9P1S3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CD20-like	p.S114L	ENST00000337908.4	37	c.341	CCDS7982.1	11	.	.	.	.	.	.	.	.	.	.	C	18.87	3.716351	0.68844	.	.	ENSG00000110079	ENST00000532114;ENST00000337908;ENST00000355131;ENST00000395016	T;T;T;T	0.03272	3.99;3.99;3.99;3.99	4.3	4.3	0.51218	.	0.084913	0.48286	D	0.000187	T	0.23289	0.0563	M	0.92970	3.365	0.35710	D	0.816283	D;P	0.89917	1.0;0.751	D;B	0.91635	0.999;0.399	T	0.38090	-0.9677	10	0.87932	D	0	-16.519	12.4643	0.55749	0.0:1.0:0.0:0.0	.	114;114	Q96JQ5-2;Q96JQ5	.;M4A4A_HUMAN	L	114;114;95;95	ENSP00000434506:S114L;ENSP00000338648:S114L;ENSP00000347252:S95L;ENSP00000378462:S95L	ENSP00000338648:S114L	S	+	2	0	MS4A4A	59825060	0.998000	0.40836	1.000000	0.80357	0.905000	0.53344	3.152000	0.50677	2.407000	0.81776	0.467000	0.42956	TCA	-	pfam_CD20-like		0.274	MS4A4A-001	KNOWN	basic|CCDS	protein_coding	MS4A4A	protein_coding	OTTHUMT00000337774.2	C		-		60068484	+1	no_errors	ENST00000337908	ensembl	human	known	74_37	missense	SNP	1.000	T
ARHGAP35	2909	genome.wustl.edu	37	19	47424921	47424921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:47424921C>T	ENST00000404338.3	+	1	2989	c.2989C>T	c.(2989-2991)Cga>Tga	p.R997*		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	997					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CAGCCTGTTTCGAGAAGACAC	0.478																																																	0								ENSG00000160007						63.0	62.0	63.0					19																	47424921		1939	4149	6088	ARHGAP35	SO:0001587	stop_gained	0			-	HGNC	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.2989C>T	19.37:g.47424921C>T	ENSP00000385720:p.Arg997*	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	A7E2A4|Q14452|Q9C0E1	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R997*	ENST00000404338.3	37	c.2989	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	40	8.316244	0.98757	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	.	.	.	5.76	3.57	0.40892	.	0.061993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-7.3842	10.1905	0.43024	0.2739:0.5937:0.1324:0.0	.	.	.	.	X	997	.	ENSP00000324820:R997X	R	+	1	2	ARHGAP35	52116761	0.001000	0.12720	0.999000	0.59377	0.993000	0.82548	-0.110000	0.10824	0.737000	0.32582	0.655000	0.94253	CGA	-	NULL		0.478	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	protein_coding	OTTHUMT00000466652.1	C	NM_004491	-		47424921	+1	no_errors	ENST00000404338	ensembl	human	known	74_37	nonsense	SNP	1.000	T
SMG6	23293	genome.wustl.edu	37	17	2090028	2090028	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:2090028G>A	ENST00000263073.6	-	12	3134	c.3084C>T	c.(3082-3084)gtC>gtT	p.V1028V	SMG6_ENST00000354901.4_Silent_p.V120V|SMG6_ENST00000536871.2_Silent_p.V120V|SMG6_ENST00000544865.1_Silent_p.V997V	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1028					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AATCTGACCAGACTTTGACAC	0.577																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0								ENSG00000070366						140.0	103.0	115.0					17																	2090028		2203	4300	6503	SMG6	SO:0001819	synonymous_variant	0			-	HGNC	AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.3084C>T	17.37:g.2090028G>A		Somatic	0	94	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	B7Z874|O94837|Q86VH6|Q9UF60	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EST1,smart_PIN_dom	p.V1028	ENST00000263073.6	37	c.3084	CCDS11016.1	17																																																																																			-	NULL		0.577	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	protein_coding	OTTHUMT00000437826.3	G		-		2090028	-1	no_errors	ENST00000263073	ensembl	human	known	74_37	silent	SNP	0.996	A
C9orf84	158401	genome.wustl.edu	37	9	114476843	114476843	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:114476843A>T	ENST00000318737.4	-	15	2233	c.2105T>A	c.(2104-2106)aTt>aAt	p.I702N	C9orf84_ENST00000374287.3_Missense_Mutation_p.I702N|C9orf84_ENST00000394777.4_Missense_Mutation_p.I628N|C9orf84_ENST00000394779.3_Missense_Mutation_p.I663N	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	702										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGTCTCCAAATGTCACCCAA	0.358																																																	0								ENSG00000165181						108.0	103.0	105.0					9																	114476843		2203	4300	6503	C9orf84	SO:0001583	missense	0			-	HGNC	AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.2105T>A	9.37:g.114476843A>T	ENSP00000322108:p.Ile702Asn	Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	40	24.53	A2A2V3|Q2M1H8|Q96M73	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_RuvA_2-like	p.I702N	ENST00000318737.4	37	c.2105	CCDS6781.3	9	.	.	.	.	.	.	.	.	.	.	A	15.61	2.884058	0.51908	.	.	ENSG00000165181	ENST00000394779;ENST00000394777;ENST00000394778;ENST00000374287;ENST00000318737	T;T;T;T	0.12361	2.69;2.77;2.71;2.71	5.74	5.74	0.90152	.	0.117108	0.38720	N	0.001585	T	0.27454	0.0674	L	0.34521	1.04	0.40678	D	0.982275	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.68943	0.961;0.961;0.961	T	0.02320	-1.1177	10	0.87932	D	0	-5.3497	16.0476	0.80731	1.0:0.0:0.0:0.0	.	628;702;663	A6PVK7;Q5VXU9;A2A2V3	.;CI084_HUMAN;.	N	663;628;316;702;702	ENSP00000378259:I663N;ENSP00000378257:I628N;ENSP00000363405:I702N;ENSP00000322108:I702N	ENSP00000322108:I702N	I	-	2	0	C9orf84	113516664	1.000000	0.71417	0.996000	0.52242	0.109000	0.19521	5.988000	0.70579	2.190000	0.69967	0.460000	0.39030	ATT	-	NULL		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	protein_coding	OTTHUMT00000053656.2	A	NM_173521	-		114476843	-1	no_errors	ENST00000318737	ensembl	human	known	74_37	missense	SNP	0.997	T
DNAH9	1770	genome.wustl.edu	37	17	11607592	11607592	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:11607592T>C	ENST00000262442.4	+	25	5292	c.5224T>C	c.(5224-5226)Tat>Cat	p.Y1742H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y1742H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1742	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAGGAAGGCTATGAGAGTGC	0.527																																																	0								ENSG00000007174						121.0	115.0	117.0					17																	11607592		2203	4300	6503	DNAH9	SO:0001583	missense	0			-	HGNC	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.5224T>C	17.37:g.11607592T>C	ENSP00000262442:p.Tyr1742His	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.Y1742H	ENST00000262442.4	37	c.5224	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	19.83	3.900718	0.72754	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.25414	1.84;1.8	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.32315	0.0825	M	0.62209	1.925	0.80722	D	1	B	0.23316	0.083	B	0.30105	0.111	T	0.04723	-1.0931	10	0.34782	T	0.22	.	16.3436	0.83110	0.0:0.0:0.0:1.0	.	1742	Q9NYC9	DYH9_HUMAN	H	1742;1742;324	ENSP00000262442:Y1742H;ENSP00000414874:Y1742H	ENSP00000262442:Y1742H	Y	+	1	0	DNAH9	11548317	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.630000	0.83225	2.269000	0.75478	0.533000	0.62120	TAT	-	NULL		0.527	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	T	NM_001372	-		11607592	+1	no_errors	ENST00000262442	ensembl	human	known	74_37	missense	SNP	1.000	C
NCEH1	57552	genome.wustl.edu	37	3	172363419	172363419	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:172363419G>A	ENST00000475381.1	-	3	664	c.431C>T	c.(430-432)tCc>tTc	p.S144F	NCEH1_ENST00000538775.1_Missense_Mutation_p.S184F|NCEH1_ENST00000543711.1_Missense_Mutation_p.S11F|NCEH1_ENST00000273512.3_Missense_Mutation_p.S176F			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	144					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TTACTCAATGGAAACAATGAC	0.313																																																	0								ENSG00000144959						133.0	143.0	140.0					3																	172363419		2203	4299	6502	NCEH1	SO:0001583	missense	0			-	HGNC	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.431C>T	3.37:g.172363419G>A	ENSP00000418571:p.Ser144Phe	Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.S184F	ENST00000475381.1	37	c.551		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.2|24.2	4.509001|4.509001	0.85282|0.85282	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	.|T;T;T;T	.|0.16457	.|2.34;2.34;2.34;2.34	5.0|5.0	5.0|5.0	0.66597|0.66597	.|Alpha/beta hydrolase fold-3 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.44008|0.44008	0.1273|0.1273	M|M	0.70903|0.70903	2.155|2.155	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.83275	.|0.991;0.996	T|T	0.42189|0.42189	-0.9466|-0.9466	5|10	.|0.87932	.|D	.|0	-21.0375|-21.0375	18.6853|18.6853	0.91560|0.91560	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|184;144	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	S|F	175|144;184;176;11	.|ENSP00000418571:S144F;ENSP00000442464:S184F;ENSP00000273512:S176F;ENSP00000443227:S11F	.|ENSP00000273512:S176F	P|S	-|-	1|2	0|0	NCEH1|NCEH1	173846113|173846113	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	8.091000|8.091000	0.89528|0.89528	2.479000|2.479000	0.83701|0.83701	0.491000|0.491000	0.48974|0.48974	CCA|TCC	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase		0.313	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	NCEH1	protein_coding	OTTHUMT00000346367.3	G	NM_020792	-		172363419	-1	no_errors	ENST00000538775	ensembl	human	known	74_37	missense	SNP	1.000	A
TMEM131	23505	genome.wustl.edu	37	2	98421592	98421592	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:98421592C>T	ENST00000186436.5	-	22	2589	c.2361G>A	c.(2359-2361)ctG>ctA	p.L787L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	787						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATCCCTTGAACAGGCTTTGAT	0.393																																																	0								ENSG00000075568						74.0	72.0	73.0					2																	98421592		1924	4150	6074	TMEM131	SO:0001819	synonymous_variant	0			-	HGNC	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2361G>A	2.37:g.98421592C>T		Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3651_TMEM131	p.L787	ENST00000186436.5	37	c.2361	CCDS46368.1	2																																																																																			-	NULL		0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	protein_coding	OTTHUMT00000329285.2	C	XM_371542	-		98421592	-1	no_errors	ENST00000186436	ensembl	human	known	74_37	silent	SNP	0.653	T
TTC19	54902	genome.wustl.edu	37	17	15909809	15909809	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:15909809C>T	ENST00000261647.5	+	7	1072	c.603C>T	c.(601-603)ggC>ggT	p.G201G	TTC19_ENST00000486880.2_Silent_p.G322G|TTC19_ENST00000497842.2_3'UTR	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	201					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTGTTGCTGGCTATGAATTCT	0.363																																																	0								ENSG00000011295						108.0	118.0	115.0					17																	15909809		2203	4300	6503	TTC19	SO:0001819	synonymous_variant	0			-	HGNC	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.603C>T	17.37:g.15909809C>T		Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_TPR_repeat,pfscan_TPR-contain_dom	p.G322	ENST00000261647.5	37	c.966	CCDS11174.2	17																																																																																			-	NULL		0.363	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	TTC19	protein_coding	OTTHUMT00000131725.6	C	NM_017775	-		15909809	+1	no_errors	ENST00000486880	ensembl	human	known	74_37	silent	SNP	1.000	T
NFASC	23114	genome.wustl.edu	37	1	204985862	204985862	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:204985862C>T	ENST00000401399.1	+	0	4117				NFASC_ENST00000367169.4_3'UTR|NFASC_ENST00000339876.6_3'UTR|NFASC_ENST00000513543.1_3'UTR|NFASC_ENST00000338586.6_3'UTR|NFASC_ENST00000404907.1_3'UTR|NFASC_ENST00000367172.4_3'UTR|NFASC_ENST00000367170.4_3'UTR|NFASC_ENST00000338515.6_3'UTR|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000360049.4_3'UTR|NFASC_ENST00000404076.1_3'UTR|NFASC_ENST00000539706.1_3'UTR|NFASC_ENST00000367171.4_3'UTR			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCCTTCAGCCCCGGGTGCCAC	0.657																																																	0								ENSG00000163531																																			NFASC	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.*195C>T	1.37:g.204985862C>T		Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			-	-		0.657	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	protein_coding	OTTHUMT00000131237.1	C	NM_001005388	-		204985862	+1	no_errors	ENST00000495396	ensembl	human	known	74_37	rna	SNP	0.134	T
TPH2	121278	genome.wustl.edu	37	12	72355441	72355441	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:72355441G>A	ENST00000333850.3	+	6	749				TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2						aromatic amino acid family metabolic process (GO:0009072)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to lithium ion (GO:0071285)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|response to activity (GO:0014823)|response to calcium ion (GO:0051592)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to nutrient levels (GO:0031667)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|neuron projection (GO:0043005)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|tryptophan 5-monooxygenase activity (GO:0004510)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ACATATTGATGGATGTTAGAT	0.383																																																	0								ENSG00000139287						74.0	73.0	73.0					12																	72355441		876	1991	2867	TPH2	SO:0001627	intron_variant	0			-	HGNC	AY098914	CCDS31859.1	12q15	2008-02-07				ENSG00000139287	1.14.16.4		20692	protein-coding gene	gene with protein product		607478				12511643	Standard	NM_173353		Approved	NTPH, FLJ37295	uc009zrw.1	Q8IWU9		ENST00000333850.3:c.609-10858G>A	12.37:g.72355441G>A		Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	A6NGA4|Q14CB0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000333850.3	37	NULL	CCDS31859.1	12	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832291	0.32421	.	.	ENSG00000139287	ENST00000266669	.	.	.	4.14	1.31	0.21738	.	.	.	.	.	T	0.39989	0.1099	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.35525	-0.9785	5	0.87932	D	0	.	6.3459	0.21349	0.3122:0.0:0.6878:0.0	.	.	.	.	I	239	.	ENSP00000266669:M239I	M	+	3	0	TPH2	70641708	0.001000	0.12720	0.000000	0.03702	0.170000	0.22686	0.461000	0.21940	0.298000	0.22638	0.655000	0.94253	ATG	-	-		0.383	TPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPH2	protein_coding	OTTHUMT00000405234.1	G	NM_173353	-		72355441	+1	no_errors	ENST00000546576	ensembl	human	known	74_37	rna	SNP	0.000	A
CFAP45	25790	genome.wustl.edu	37	1	159854353	159854353	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:159854353C>T	ENST00000368099.4	-	7	834	c.770G>A	c.(769-771)gGa>gAa	p.G257E	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000426543.2_Missense_Mutation_p.G172E	NM_012337.2	NP_036469.2														endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TTGCCGCCTTCCTCTTGGAGA	0.542																																																	0								ENSG00000213085						164.0	160.0	161.0					1																	159854353		2203	4300	6503	CCDC19	SO:0001583	missense	0			-	HGNC																												ENST00000368099.4:c.770G>A	1.37:g.159854353C>T	ENSP00000357079:p.Gly257Glu	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	30.43		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G257E	ENST00000368099.4	37	c.770	CCDS30914.1	1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288527	0.59976	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.11063	2.81;2.81	4.81	4.81	0.61882	.	0.244508	0.39407	N	0.001369	T	0.22322	0.0538	M	0.69358	2.11	0.54753	D	0.999986	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00617	-1.1642	9	.	.	.	-19.6849	15.7565	0.78030	0.0:1.0:0.0:0.0	.	257;257	A8K884;Q9UL16	.;CCD19_HUMAN	E	257;172	ENSP00000357079:G257E;ENSP00000403044:G172E	.	G	-	2	0	CCDC19	158120977	1.000000	0.71417	0.999000	0.59377	0.211000	0.24417	4.657000	0.61490	2.370000	0.80446	0.655000	0.94253	GGA	-	NULL		0.542	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC19	protein_coding	OTTHUMT00000085979.1	C		-		159854353	-1	no_errors	ENST00000368099	ensembl	human	known	74_37	missense	SNP	1.000	T
AHNAK	79026	genome.wustl.edu	37	11	62298205	62298205	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:62298205A>T	ENST00000378024.4	-	5	3958	c.3684T>A	c.(3682-3684)gaT>gaA	p.D1228E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1228					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGATTTCAACATCTGGCACTT	0.488																																																	0								ENSG00000124942						286.0	295.0	292.0					11																	62298205		2202	4299	6501	AHNAK	SO:0001583	missense	0			-	HGNC	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3684T>A	11.37:g.62298205A>T	ENSP00000367263:p.Asp1228Glu	Somatic	0	182	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	A1A586	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.D1228E	ENST00000378024.4	37	c.3684	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	a	1.859	-0.463098	0.04476	.	.	ENSG00000124942	ENST00000378024	T	0.01228	5.14	5.01	-2.2	0.06994	.	0.171164	0.27618	N	0.018572	T	0.00845	0.0028	N	0.20574	0.59	0.09310	N	0.999999	B	0.15473	0.013	B	0.21708	0.036	T	0.47812	-0.9088	10	0.18710	T	0.47	.	2.2232	0.03978	0.236:0.2123:0.0742:0.4775	.	1228	Q09666	AHNK_HUMAN	E	1228	ENSP00000367263:D1228E	ENSP00000367263:D1228E	D	-	3	2	AHNAK	62054781	0.000000	0.05858	0.968000	0.41197	0.132000	0.20833	-0.951000	0.03885	-0.057000	0.13199	0.528000	0.53228	GAT	-	NULL		0.488	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	A	NM_024060	-		62298205	-1	no_errors	ENST00000378024	ensembl	human	known	74_37	missense	SNP	0.155	T
KIAA1107	23285	genome.wustl.edu	37	1	92646319	92646319	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:92646319G>A	ENST00000370378.4	+	8	1863	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	KIAA1107_ENST00000409154.4_Missense_Mutation_p.E644K	NM_015237.2	NP_056052.2	Q9UPP5	K1107_HUMAN	KIAA1107	644										breast(4)|central_nervous_system(1)|endometrium(3)|kidney(2)|prostate(1)|skin(3)	14						GTTGGCGTTAGAATGCCAAAA	0.363																																																	0								ENSG00000069712						66.0	57.0	60.0					1																	92646319		692	1591	2283	KIAA1107	SO:0001583	missense	0			-	HGNC	AB029030	CCDS44172.1	1p22.1	2008-02-05			ENSG00000069712	ENSG00000069712			29192	protein-coding gene	gene with protein product						10470851	Standard	NM_015237		Approved		uc010otd.2	Q9UPP5	OTTHUMG00000010292	ENST00000370378.4:c.1765G>A	1.37:g.92646319G>A	ENSP00000359404:p.Glu589Lys	Somatic	0	20	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	11	50.00	O14767|Q8N3X7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E644K	ENST00000370378.4	37	c.1930	CCDS44172.1	1	.	.	.	.	.	.	.	.	.	.	G	8.852	0.944878	0.18356	.	.	ENSG00000069712	ENST00000409154;ENST00000370378	T;T	0.04917	3.53;3.53	5.62	4.71	0.59529	.	0.492334	0.20159	N	0.098000	T	0.02342	0.0072	L	0.56769	1.78	0.24770	N	0.992871	B	0.28350	0.208	B	0.22152	0.038	T	0.39313	-0.9620	10	0.30854	T	0.27	.	7.5529	0.27808	0.1496:0.1474:0.703:0.0	.	589	E9PEZ5	.	K	644;589	ENSP00000386957:E644K;ENSP00000359404:E589K	ENSP00000359404:E589K	E	+	1	0	KIAA1107	92418907	0.995000	0.38212	0.887000	0.34795	0.585000	0.36419	2.049000	0.41288	1.388000	0.46506	0.655000	0.94253	GAA	-	NULL		0.363	KIAA1107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1107	protein_coding	OTTHUMT00000028375.3	G	XM_034086	-		92646319	+1	no_errors	ENST00000409154	ensembl	human	known	74_37	missense	SNP	0.986	A
AC005077.5	0	genome.wustl.edu	37	7	75803656	75803656	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:75803656C>T	ENST00000437494.1	+	0	30																											ACCAGAGGTTCTGGACATCAT	0.582																																																	0								ENSG00000228829																																			AC005077.5			0			-	Clone_based_vega_gene																													7.37:g.75803656C>T		Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000437494.1	37	NULL		7																																																																																			-	-		0.582	AC005077.5-002	KNOWN	basic	processed_transcript	ENSG00000228829	pseudogene	OTTHUMT00000344669.1	C		-		75803656	+1	no_errors	ENST00000437494	ensembl	human	known	74_37	rna	SNP	0.891	T
MAP3K7CL	56911	genome.wustl.edu	37	21	30521520	30521520	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:30521520C>T	ENST00000399947.2	+	7	658	c.381C>T	c.(379-381)ccC>ccT	p.P127P	MAP3K7CL_ENST00000399934.1_Silent_p.P27P|MAP3K7CL_ENST00000545939.1_Silent_p.P21P|MAP3K7CL_ENST00000399935.2_Silent_p.P27P|MAP3K7CL_ENST00000341618.4_Silent_p.P127P|MAP3K7CL_ENST00000399928.1_Silent_p.P27P|MAP3K7CL_ENST00000399926.1_Silent_p.P27P|MAP3K7CL_ENST00000339024.4_Silent_p.P27P|MAP3K7CL_ENST00000399925.1_Silent_p.P27P|MAP3K7CL_ENST00000286791.5_3'UTR	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	127						cytosol (GO:0005829)|nucleus (GO:0005634)											ATGATACACCCCCTGAAGACT	0.408																																																	0								ENSG00000156265						168.0	158.0	161.0					21																	30521520		2203	4300	6503	MAP3K7CL	SO:0001819	synonymous_variant	0			-	HGNC	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.381C>T	21.37:g.30521520C>T		Somatic	0	39	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	D3DSE0|Q8TCL9	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P127	ENST00000399947.2	37	c.381	CCDS13584.1	21																																																																																			-	NULL		0.408	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	MAP3K7CL	protein_coding	OTTHUMT00000171865.2	C	NM_020152	-		30521520	+1	no_errors	ENST00000341618	ensembl	human	known	74_37	silent	SNP	0.456	T
MYO1B	4430	genome.wustl.edu	37	2	192265479	192265479	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:192265479G>A	ENST00000392318.3	+	23	2634	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MYO1B_ENST00000392316.1_Intron|MYO1B_ENST00000439065.2_Intron|MYO1B_ENST00000304164.4_Missense_Mutation_p.R796Q|MYO1B_ENST00000339514.4_Intron	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	796	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.				actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TCACAGGCACGAAGGGAACTG	0.423																																																	0								ENSG00000128641						107.0	91.0	96.0					2																	192265479		1568	3582	5150	MYO1B	SO:0001583	missense	0			-	HGNC	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.2387G>A	2.37:g.192265479G>A	ENSP00000376132:p.Arg796Gln	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	O43794|Q7Z6L5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R796Q	ENST00000392318.3	37	c.2387	CCDS46477.1	2	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696941	0.68386	.	.	ENSG00000128641	ENST00000392318;ENST00000304164	T;T	0.76968	-1.06;-1.06	5.13	4.26	0.50523	.	0.071320	0.64402	D	0.000020	T	0.58921	0.2156	N	0.08118	0	0.80722	D	1	B	0.17852	0.024	B	0.08055	0.003	T	0.56469	-0.7974	10	0.46703	T	0.11	.	12.0166	0.53317	0.0797:0.0:0.9203:0.0	.	796	O43795	MYO1B_HUMAN	Q	796	ENSP00000376132:R796Q;ENSP00000306382:R796Q	ENSP00000306382:R796Q	R	+	2	0	MYO1B	191973724	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.855000	0.92236	1.396000	0.46663	0.650000	0.86243	CGA	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.423	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MYO1B	protein_coding	OTTHUMT00000334774.1	G	NM_012223	-		192265479	+1	no_errors	ENST00000304164	ensembl	human	known	74_37	missense	SNP	1.000	A
SYCP2	10388	genome.wustl.edu	37	20	58475799	58475799	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:58475799C>T	ENST00000357552.3	-	17	1482	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	SYCP2_ENST00000371001.2_Splice_Site_p.Q419Q			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	419					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TGAGACATACCTGTGATCCAC	0.343																																																	0								ENSG00000196074						112.0	99.0	103.0					20																	58475799		2203	4300	6503	SYCP2	SO:0001630	splice_region_variant	0			-	HGNC	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.1257+1G>A	20.37:g.58475799C>T		Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Q419	ENST00000357552.3	37	c.1257	CCDS13482.1	20																																																																																			-	NULL		0.343	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	protein_coding	OTTHUMT00000079930.3	C	NM_014258	-	Silent	58475799	-1	no_errors	ENST00000357552	ensembl	human	known	74_37	silent	SNP	1.000	T
CACTIN	58509	genome.wustl.edu	37	19	3624118	3624118	+	Silent	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:3624118T>A	ENST00000429344.2	-	2	262	c.210A>T	c.(208-210)cgA>cgT	p.R70R	CACTIN_ENST00000248420.5_Silent_p.R70R|CACTIN_ENST00000221899.3_Silent_p.R2R	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	70					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										GGCTCCGGCTTCGCATCCCTG	0.652																																																	0								ENSG00000105298						57.0	68.0	64.0					19																	3624118		1998	4103	6101	CACTIN	SO:0001819	synonymous_variant	0			-	HGNC	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.210A>T	19.37:g.3624118T>A		Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cactin_dom,pfam_Cactin_C	p.R2	ENST00000429344.2	37	c.6	CCDS45920.1	19																																																																																			-	NULL		0.652	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	protein_coding	OTTHUMT00000457370.2	T		-		3624118	-1	no_errors	ENST00000221899	ensembl	human	known	74_37	silent	SNP	0.000	A
SYNJ2	8871	genome.wustl.edu	37	6	158485872	158485872	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:158485872G>A	ENST00000355585.4	+	11	1449	c.1374G>A	c.(1372-1374)aaG>aaA	p.K458K	SYNJ2_ENST00000367122.2_Silent_p.K458K|SYNJ2_ENST00000449859.2_Silent_p.K386K|SYNJ2_ENST00000367121.3_Silent_p.K458K	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	458					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GGAAGCTGAAGGATGGAGCCC	0.682																																																	0								ENSG00000078269						42.0	44.0	43.0					6																	158485872		2203	4300	6503	SYNJ2	SO:0001819	synonymous_variant	0			-	HGNC	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1374G>A	6.37:g.158485872G>A		Somatic	0	161	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N	p.K458	ENST00000355585.4	37	c.1374	CCDS5254.1	6																																																																																			-	NULL		0.682	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	protein_coding	OTTHUMT00000042858.2	G		-		158485872	+1	no_errors	ENST00000355585	ensembl	human	known	74_37	silent	SNP	1.000	A
ANKFY1	51479	genome.wustl.edu	37	17	4075911	4075911	+	Missense_Mutation	SNP	G	G	C	rs552448221		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:4075911G>C	ENST00000341657.4	-	22	3114	c.3079C>G	c.(3079-3081)Ctc>Gtc	p.L1027V	CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Missense_Mutation_p.L1028V|ANKFY1_ENST00000570535.1_Missense_Mutation_p.L1069V	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	1027					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TCTAGGAAGAGATCAAAGATG	0.517																																																	0								ENSG00000185722						88.0	95.0	93.0					17																	4075911		1972	4162	6134	ANKFY1	SO:0001583	missense	0			-	HGNC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.3079C>G	17.37:g.4075911G>C	ENSP00000343362:p.Leu1027Val	Somatic	0	91	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	28	22.22	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.L1069V	ENST00000341657.4	37	c.3205		17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405541	0.62288	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.41	5.41	0.78517	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.84460	0.5477	M	0.88979	2.995	0.80722	D	1	D;P;P;P	0.71674	0.998;0.615;0.607;0.734	D;B;B;B	0.77557	0.99;0.1;0.12;0.203	D	0.84132	0.0412	9	0.35671	T	0.21	-13.5706	18.5445	0.91042	0.0:0.0:1.0:0.0	.	969;1027;1028;1069	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	V	1028;969	.	ENSP00000343362:L1028V	L	-	1	0	ANKFY1	4022660	1.000000	0.71417	0.998000	0.56505	0.180000	0.23129	4.738000	0.62073	2.711000	0.92665	0.563000	0.77884	CTC	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.517	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	protein_coding	OTTHUMT00000438702.1	G	NM_016376	-		4075911	-1	no_errors	ENST00000570535	ensembl	human	known	74_37	missense	SNP	1.000	C
C19orf57	79173	genome.wustl.edu	37	19	14000987	14000987	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:14000987G>A	ENST00000586783.1	-	5	681	c.682C>T	c.(682-684)Cca>Tca	p.P228S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P228S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000454313.1_Missense_Mutation_p.P228S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	228					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCGTCACCTGGAACCCTGTCT	0.612																																																	0								ENSG00000132016						146.0	126.0	133.0					19																	14000987		2203	4300	6503	C19orf57	SO:0001583	missense	0			-	HGNC	BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.682C>T	19.37:g.14000987G>A	ENSP00000465822:p.Pro228Ser	Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q13411|Q8N825|Q96D63|Q9BU49	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P228S	ENST00000586783.1	37	c.682		19	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896135	0.33442	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	T;T	0.31769	1.48;1.48	3.44	1.04	0.20106	.	.	.	.	.	T	0.18045	0.0433	L	0.27053	0.805	0.09310	N	1	B;B	0.28713	0.22;0.22	B;B	0.27076	0.076;0.076	T	0.20042	-1.0287	9	0.41790	T	0.15	1.1305	4.1399	0.10188	0.1389:0.2442:0.6169:0.0	.	228;228	Q0VDD7-2;Q0VDD7	.;CS057_HUMAN	S	228	ENSP00000404382:P228S;ENSP00000254336:P228S	ENSP00000254336:P228S	P	-	1	0	C19orf57	13861987	0.000000	0.05858	0.020000	0.16555	0.035000	0.12851	0.027000	0.13621	0.770000	0.33336	0.491000	0.48974	CCA	-	NULL		0.612	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	protein_coding	OTTHUMT00000457947.1	G	NM_024323	-		14000987	-1	no_errors	ENST00000454313	ensembl	human	known	74_37	missense	SNP	0.011	A
ZIM2	23619	genome.wustl.edu	37	19	57286738	57286738	+	Missense_Mutation	SNP	G	G	A	rs146726213	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:57286738G>A	ENST00000391708.3	-	12	1444	c.902C>T	c.(901-903)cCt>cTt	p.P301L	ZIM2_ENST00000221722.5_Missense_Mutation_p.P301L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P301L|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000593711.1_Missense_Mutation_p.P301L|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.P301L	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	301					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		CTTTCCTAGAGGATCCTTTGA	0.443													G|||	13	0.00259585	0.0	0.0	5008	,	,		18770	0.0		0.0	False		,,,				2504	0.0133																0								ENSG00000269699	G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	118.0	114.0	115.0		902,902,902	-3.5	0.0	19	dbSNP_134	115	15,8585	11.2+/-40.8	0,15,4285	yes	missense,missense,missense	ZIM2	NM_001146326.1,NM_001146327.1,NM_015363.4	98,98,98	0,15,6488	AA,AG,GG		0.1744,0.0,0.1153	,,	301/528,301/528,301/528	57286738	15,12991	2203	4300	6503	ZIM2	SO:0001583	missense	0			-	HGNC	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.902C>T	19.37:g.57286738G>A	ENSP00000375589:p.Pro301Leu	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	Q2M3K1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P301L	ENST00000391708.3	37	c.902	CCDS33123.1	19	.	.	.	.	.	.	.	.	.	.	G	9.596	1.127356	0.20959	0.0	0.001744	ENSG00000198300	ENST00000391708;ENST00000221722	T;T	0.04917	3.53;3.53	3.89	-3.49	0.04724	.	.	.	.	.	T	0.03827	0.0108	N	0.12182	0.205	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.31364	-0.9946	8	0.62326	D	0.03	.	11.1557	0.48486	0.3184:0.0:0.6816:0.0	.	301	Q9NZV7	ZIM2_HUMAN	L	301	ENSP00000375589:P301L;ENSP00000221722:P301L	ENSP00000221722:P301L	P	-	2	0	ZIM2	61978550	0.003000	0.15002	0.000000	0.03702	0.050000	0.14768	0.636000	0.24644	-0.521000	0.06426	-1.105000	0.02106	CCT	-	NULL		0.443	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	protein_coding	OTTHUMT00000416094.2	G		rs146726213		57286738	-1	no_errors	ENST00000221722	ensembl	human	known	74_37	missense	SNP	0.000	A
RP11-597A11.2	0	genome.wustl.edu	37	14	20147149	20147149	+	lincRNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:20147149C>T	ENST00000547175.1	+	0	0				RP11-597A11.6_ENST00000555580.1_lincRNA|RP11-597A11.1_ENST00000548261.1_RNA																							GTTCCAGTTTCAGGGGATCCT	0.507																																																	0								ENSG00000259069																																			RP11-597A11.6			0			-	Clone_based_vega_gene																													14.37:g.20147149C>T		Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	37	15.91		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000547175.1	37	NULL		14																																																																																			-	-		0.507	RP11-597A11.2-001	KNOWN	basic	lincRNA	ENSG00000259069	lincRNA	OTTHUMT00000409598.1	C		-		20147149	-1	no_errors	ENST00000555580	ensembl	human	known	74_37	rna	SNP	1.000	T
CIT	11113	genome.wustl.edu	37	12	120148136	120148136	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:120148136G>A	ENST00000261833.7	-	38	4917	c.4865C>T	c.(4864-4866)tCc>tTc	p.S1622F	CIT_ENST00000392521.2_Missense_Mutation_p.S1664F|CIT_ENST00000537607.1_5'UTR	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1622	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATGGGTTAGGGAGTTTTTCAA	0.512																																																	0								ENSG00000122966						102.0	100.0	100.0					12																	120148136		2203	4300	6503	CIT	SO:0001583	missense	0			-	HGNC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4865C>T	12.37:g.120148136G>A	ENSP00000261833:p.Ser1622Phe	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.S1622F	ENST00000261833.7	37	c.4865	CCDS9192.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.291384|5.291384	0.95546|0.95546	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.05081	.|3.5;3.5	5.86|5.86	5.86|5.86	0.93980|0.93980	.|Citron-like (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.24353|0.24353	0.0590|0.0590	L|L	0.60455|0.60455	1.87|1.87	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.76494	.|0.999;0.998;0.994	.|D;D;P	.|0.72338	.|0.977;0.958;0.846	T|T	0.00025|0.00025	-1.2318|-1.2318	5|10	.|0.72032	.|D	.|0.01	.|.	20.1865|20.1865	0.98220|0.98220	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1664;1622;1140	.|Q2M5E1;O14578;O14578-3	.|.;CTRO_HUMAN;.	S|F	1235|1664;1622	.|ENSP00000376306:S1664F;ENSP00000261833:S1622F	.|ENSP00000261833:S1622F	P|S	-|-	1|2	0|0	CIT|CIT	118632519|118632519	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.471000|9.471000	0.97696|0.97696	2.775000|2.775000	0.95449|0.95449	0.655000|0.655000	0.94253|0.94253	CCC|TCC	-	pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase		0.512	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	protein_coding	OTTHUMT00000259410.4	G	NM_007174	-		120148136	-1	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	SNP	1.000	A
ATG2B	55102	genome.wustl.edu	37	14	96769409	96769409	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:96769409G>A	ENST00000359933.4	-	33	5919	c.5026C>T	c.(5026-5028)Cac>Tac	p.H1676Y	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1676					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		ATGTTGGAGTGAGCTTTTCGA	0.343																																																	0								ENSG00000066739						111.0	109.0	110.0					14																	96769409		2203	4300	6503	ATG2B	SO:0001583	missense	0			-	HGNC	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.5026C>T	14.37:g.96769409G>A	ENSP00000353010:p.His1676Tyr	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Autophagy-rel_C	p.H1676Y	ENST00000359933.4	37	c.5026	CCDS9944.2	14	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899607	0.72754	.	.	ENSG00000066739	ENST00000359933	T	0.10668	2.85	5.65	5.65	0.86999	.	0.319845	0.38217	N	0.001763	T	0.17280	0.0415	M	0.64170	1.965	0.58432	D	0.999997	B	0.12630	0.006	B	0.11329	0.006	T	0.01899	-1.1251	10	0.51188	T	0.08	.	20.0965	0.97849	0.0:0.0:1.0:0.0	.	1676	Q96BY7	ATG2B_HUMAN	Y	1676	ENSP00000353010:H1676Y	ENSP00000261834:H320Y	H	-	1	0	ATG2B	95839162	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.143000	0.94623	2.824000	0.97209	0.655000	0.94253	CAC	-	NULL		0.343	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	protein_coding	OTTHUMT00000314037.1	G	NM_018036	-		96769409	-1	no_errors	ENST00000359933	ensembl	human	known	74_37	missense	SNP	1.000	A
OR7E14P	10819	genome.wustl.edu	37	11	17074157	17074157	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:17074157C>T	ENST00000530490.1	+	0	949				AC116533.2_ENST00000583154.1_RNA					olfactory receptor, family 7, subfamily E, member 14 pseudogene																		TTCTCAACTCCCCCACCATGC	0.443																																																	0								ENSG00000184669																																			OR7E14P			0			-	HGNC	AF065856		11p15.1	2012-08-09			ENSG00000184669	ENSG00000184669		"""GPCR / Class A : Olfactory receptors"""	8385	pseudogene	pseudogene				OR7E151P		9787077	Standard	NR_045002		Approved	OR11-5	uc021qeh.1		OTTHUMG00000165955		11.37:g.17074157C>T		Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000530490.1	37	NULL		11																																																																																			-	-		0.443	OR7E14P-002	KNOWN	basic	processed_transcript	OR7E14P	pseudogene	OTTHUMT00000387319.1	C		-		17074157	+1	no_errors	ENST00000530490	ensembl	human	known	74_37	rna	SNP	0.008	T
GBE1	2632	genome.wustl.edu	37	3	81754754	81754754	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:81754754A>G	ENST00000429644.2	-	2	797	c.154T>C	c.(154-156)Ttt>Ctt	p.F52L	GBE1_ENST00000489715.1_Missense_Mutation_p.F11L	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	52					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		ATTTGGCTAAACTGCTTATAC	0.338									Glycogen Storage Disease, type IV																																								0								ENSG00000114480						35.0	31.0	32.0					3																	81754754		1807	4061	5868	GBE1	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-	HGNC		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.154T>C	3.37:g.81754754A>G	ENSP00000410833:p.Phe52Leu	Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	14	57.14	B3KWV3|Q96EN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.F52L	ENST00000429644.2	37	c.154	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	A	12.12	1.843185	0.32606	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	T;T	0.16457	2.34;2.35	5.64	5.64	0.86602	.	0.055061	0.85682	D	0.000000	T	0.18635	0.0447	L	0.48174	1.505	0.45239	D	0.998242	B;B	0.14805	0.009;0.011	B;B	0.17979	0.008;0.02	T	0.02075	-1.1218	10	0.34782	T	0.22	-21.228	15.5856	0.76479	1.0:0.0:0.0:0.0	.	11;52	E9PGM4;Q04446	.;GLGB_HUMAN	L	52;103;11	ENSP00000410833:F52L;ENSP00000419638:F11L	ENSP00000264326:F103L	F	-	1	0	GBE1	81837444	1.000000	0.71417	0.125000	0.21846	0.442000	0.32017	5.992000	0.70609	2.167000	0.68274	0.456000	0.33151	TTT	-	NULL		0.338	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	protein_coding	OTTHUMT00000352760.2	A		-		81754754	-1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	SNP	0.898	G
RHBDF2	79651	genome.wustl.edu	37	17	74473267	74473267	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:74473267G>A	ENST00000313080.4	-	8	1275	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	RHBDF2_ENST00000389760.4_Silent_p.I305I|RHBDF2_ENST00000591885.1_Silent_p.I305I|RHBDF2_ENST00000592378.1_5'Flank	NM_024599.5	NP_078875.4	Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	334					negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CTCACAGAGGGATTTGCACCC	0.652																																																	0								ENSG00000129667						20.0	23.0	22.0					17																	74473267		2203	4300	6503	RHBDF2	SO:0001819	synonymous_variant	0			-	HGNC	BC016034	CCDS32743.1, CCDS32744.1	17q25.3	2014-09-17	2006-02-22	2006-02-22		ENSG00000129667			20788	protein-coding gene	gene with protein product		614404	"""rhomboid, veinlet-like 6 (Drosophila)"", ""tylosis with oesophageal cancer"""	RHBDL6, TOC		12838346, 22265016	Standard	NM_024599		Approved	FLJ22341, RHBDL5, TOCG	uc002jrq.2	Q6PJF5		ENST00000313080.4:c.1002C>T	17.37:g.74473267G>A		Somatic	0	143	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	58	24.68	A6NEM3|A8K801|Q5U607|Q5YGQ8|Q9H6E9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.I334	ENST00000313080.4	37	c.1002	CCDS32743.1	17																																																																																			-	pfam_Rhomboid_SP		0.652	RHBDF2-001	KNOWN	basic|CCDS	protein_coding	RHBDF2	protein_coding	OTTHUMT00000450134.1	G	NM_024599	-		74473267	-1	no_errors	ENST00000313080	ensembl	human	known	74_37	silent	SNP	0.012	A
ZMYM4	9202	genome.wustl.edu	37	1	35857822	35857822	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:35857822C>T	ENST00000314607.6	+	16	2677	c.2597C>T	c.(2596-2598)tCc>tTc	p.S866F	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S777F	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	866					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAAATATTTCCATGGTTCAA	0.388																																																	0								ENSG00000146463						59.0	61.0	60.0					1																	35857822		2203	4300	6503	ZMYM4	SO:0001583	missense	0			-	HGNC	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2597C>T	1.37:g.35857822C>T	ENSP00000322915:p.Ser866Phe	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom	p.S866F	ENST00000314607.6	37	c.2597	CCDS389.1	1	.	.	.	.	.	.	.	.	.	.	C	17.20	3.329091	0.60743	.	.	ENSG00000146463	ENST00000314607;ENST00000373297	T;T	0.25085	1.82;1.84	4.98	4.98	0.66077	.	0.488921	0.21054	N	0.080941	T	0.32793	0.0841	L	0.58810	1.83	0.44424	D	0.997349	P	0.43973	0.823	B	0.42062	0.374	T	0.22871	-1.0204	10	0.66056	D	0.02	-7.3041	18.5957	0.91228	0.0:1.0:0.0:0.0	.	866	Q5VZL5	ZMYM4_HUMAN	F	866;777	ENSP00000322915:S866F;ENSP00000362394:S777F	ENSP00000322915:S866F	S	+	2	0	ZMYM4	35630409	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	2.985000	0.49362	2.465000	0.83290	0.591000	0.81541	TCC	-	NULL		0.388	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM4	protein_coding	OTTHUMT00000012207.3	C	NM_005095	-		35857822	+1	no_errors	ENST00000314607	ensembl	human	known	74_37	missense	SNP	1.000	T
FAM47A	158724	genome.wustl.edu	37	X	34149601	34149601	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:34149601C>T	ENST00000346193.3	-	1	846	c.795G>A	c.(793-795)ctG>ctA	p.L265L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	265										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AATCCAGTTTCAGCAGCTGTC	0.597																																																	0								ENSG00000185448						32.0	33.0	33.0					X																	34149601		2198	4298	6496	FAM47A	SO:0001819	synonymous_variant	0			-	HGNC	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.795G>A	X.37:g.34149601C>T		Somatic	0	130	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	42	48.15	A8K8I9|Q8TAA0	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L265	ENST00000346193.3	37	c.795	CCDS43926.1	X																																																																																			-	NULL		0.597	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	C	NM_203408	-		34149601	-1	no_errors	ENST00000346193	ensembl	human	known	74_37	silent	SNP	0.277	T
GATSL3	652968	genome.wustl.edu	37	22	30682027	30682027	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:30682027G>A	ENST00000407689.3	-	7	933	c.804C>T	c.(802-804)atC>atT	p.I268I	GATSL3_ENST00000404953.3_Silent_p.I230I|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000459785.1_Intron	NM_001037666.2	NP_001032755.1	Q8WTX7	GATL3_HUMAN	GATS protein-like 3	268										breast(1)|endometrium(1)|lung(1)	3						GCTGTCCACCGATGCGCACCA	0.672																																																	0								ENSG00000239282						34.0	42.0	39.0					22																	30682027		2027	4174	6201	GATSL3	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43001.1	22q12	2010-06-23			ENSG00000239282	ENSG00000239282			34423	protein-coding gene	gene with protein product							Standard	NM_001037666		Approved			Q8WTX7	OTTHUMG00000150929	ENST00000407689.3:c.804C>T	22.37:g.30682027G>A		Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	O76052|Q96ND9|Q9UIE8	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I268	ENST00000407689.3	37	c.804	CCDS43001.1	22																																																																																			-	NULL		0.672	GATSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATSL3	protein_coding	OTTHUMT00000320581.2	G	NM_001037666	-		30682027	-1	no_errors	ENST00000407689	ensembl	human	known	74_37	silent	SNP	0.975	A
RPL22P19	644022	genome.wustl.edu	37	12	125420220	125420220	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:125420220C>T	ENST00000480427.1	-	0	221									ribosomal protein L22 pseudogene 19																		TTGCTCCCTTCGATGGTCACT	0.428																																																	0								ENSG00000241129																																			RPL22P19			0			-	HGNC			12q24.31	2009-03-11				ENSG00000241129			36567	pseudogene	pseudogene						19123937	Standard	NG_010946		Approved						12.37:g.125420220C>T		Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000480427.1	37	NULL		12																																																																																			-	-		0.428	RPL22P19-002	KNOWN	basic	processed_transcript	RPL22P19	pseudogene	OTTHUMT00000351190.1	C	NG_010946	-		125420220	-1	no_errors	ENST00000480427	ensembl	human	known	74_37	rna	SNP	0.863	T
LINC01183	728586	genome.wustl.edu	37	5	127039193	127039193	+	lincRNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:127039193G>A	ENST00000514853.2	+	0	112																											ACCTCAGAGAGAAGCAGGTGA	0.453																																																	0								ENSG00000230561																																			CTC-228N24.1			0			-	Clone_based_vega_gene																													5.37:g.127039193G>A		Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000514853.2	37	NULL		5																																																																																			-	-		0.453	CTC-228N24.1-001	KNOWN	not_organism_supported|basic	lincRNA	LOC728586	lincRNA	OTTHUMT00000372464.3	G		-		127039193	+1	no_errors	ENST00000514853	ensembl	human	known	74_37	rna	SNP	0.456	A
POLE	5426	genome.wustl.edu	37	12	133237724	133237724	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:133237724G>A	ENST00000320574.5	-	25	2934	c.2891C>T	c.(2890-2892)tCt>tTt	p.S964F	POLE_ENST00000535270.1_Missense_Mutation_p.S937F	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	964					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTCAGCCAGAGAACCGTCTTC	0.532								DNA polymerases (catalytic subunits)																																									0								ENSG00000177084						128.0	138.0	134.0					12																	133237724		2203	4300	6503	POLE	SO:0001583	missense	0			-	HGNC		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.2891C>T	12.37:g.133237724G>A	ENSP00000322570:p.Ser964Phe	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	16	33.33	Q13533|Q86VH9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.S964F	ENST00000320574.5	37	c.2891	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973280	0.74246	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000376577	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.34	4.43	0.53597	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.51483	0.1677	M	0.93062	3.375	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.978;0.987	T	0.66011	-0.6029	10	0.87932	D	0	.	15.3756	0.74602	0.0:0.0:0.8596:0.1404	.	937;964	F5H1D6;Q07864	.;DPOE1_HUMAN	F	964;975;937;744;899	ENSP00000322570:S964F;ENSP00000406383:S975F;ENSP00000445753:S937F;ENSP00000442519:S744F	ENSP00000322570:S964F	S	-	2	0	POLE	131747797	1.000000	0.71417	0.665000	0.29768	0.736000	0.42039	9.806000	0.99153	1.243000	0.43853	0.638000	0.83543	TCT	-	pfam_DNA-dir_DNA_pol_B_multi_dom		0.532	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	protein_coding	OTTHUMT00000397689.2	G	NM_006231	-		133237724	-1	no_errors	ENST00000320574	ensembl	human	known	74_37	missense	SNP	1.000	A
SRGN	5552	genome.wustl.edu	37	10	70863888	70863888	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:70863888C>T	ENST00000242465.3	+	0	529				SRGN_ENST00000462445.1_3'UTR	NM_002727.2	NP_002718.2	P10124	SRGN_HUMAN	serglycin						biomineral tissue development (GO:0031214)|blood coagulation (GO:0007596)|granzyme-mediated apoptotic signaling pathway (GO:0008626)|maintenance of granzyme B location in T cell secretory granule (GO:0033382)|maintenance of protease location in mast cell secretory granule (GO:0033373)|mast cell secretory granule organization (GO:0033364)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine secretion (GO:0050710)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein processing (GO:0016485)|T cell secretory granule organization (GO:0033371)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|mast cell granule (GO:0042629)|platelet alpha granule lumen (GO:0031093)|zymogen granule (GO:0042588)				large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(3)	7						AGAGGATTTTCCCACCTTGAC	0.363																																																	0								ENSG00000122862						88.0	92.0	90.0					10																	70863888		2203	4300	6503	SRGN	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC015516	CCDS7285.1	10q22.1	2007-02-16	2007-02-15	2007-02-15	ENSG00000122862	ENSG00000122862		"""Proteoglycans / Extracellular Matrix : Other"""	9361	protein-coding gene	gene with protein product	"""serglycin proteoglycan"""	177040	"""proteoglycan 1, secretory granule"""	PRG, PRG1			Standard	NR_036430		Approved	PPG	uc001joz.3	P10124	OTTHUMG00000018369	ENST00000242465.3:c.*12C>T	10.37:g.70863888C>T		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00	B2R4L7|Q5VW06	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000242465.3	37	NULL	CCDS7285.1	10																																																																																			-	-		0.363	SRGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRGN	protein_coding	OTTHUMT00000048379.1	C	NM_002727	-		70863888	+1	no_errors	ENST00000462445	ensembl	human	known	74_37	rna	SNP	0.001	T
GRB10	2887	genome.wustl.edu	37	7	50671731	50671731	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:50671731G>A	ENST00000401949.1	-	17	1977	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	GRB10_ENST00000402497.1_Missense_Mutation_p.S445F|GRB10_ENST00000357271.5_Missense_Mutation_p.S457F|GRB10_ENST00000403097.1_Missense_Mutation_p.S497F|GRB10_ENST00000402578.1_Missense_Mutation_p.S445F|GRB10_ENST00000398812.2_Missense_Mutation_p.S503F|GRB10_ENST00000335866.3_Missense_Mutation_p.S445F|GRB10_ENST00000439599.1_Missense_Mutation_p.S497F|GRB10_ENST00000407526.1_Missense_Mutation_p.S445F|GRB10_ENST00000406641.1_Missense_Mutation_p.S445F|GRB10_ENST00000398810.2_Missense_Mutation_p.S445F			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	503	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GATCCTGTGGGATTCCTCCCT	0.527									Russell-Silver syndrome																																								0								ENSG00000106070						200.0	199.0	199.0					7																	50671731		1947	4150	6097	GRB10	SO:0001583	missense	0	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	-	HGNC		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1508C>T	7.37:g.50671731G>A	ENSP00000385770:p.Ser503Phe	Somatic	0	104	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	43	37.68	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2	p.S503F	ENST00000401949.1	37	c.1508	CCDS43582.1	7	.	.	.	.	.	.	.	.	.	.	G	27.6	4.843300	0.91197	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.46	5.46	0.80206	SH2 motif (5);	0.051045	0.85682	D	0.000000	T	0.69584	0.3127	M	0.85542	2.76	0.80722	D	1	D;D;D	0.65815	0.995;0.995;0.992	D;D;D	0.71870	0.971;0.971;0.975	T	0.74754	-0.3558	10	0.87932	D	0	-13.4362	18.9023	0.92448	0.0:0.0:1.0:0.0	.	497;457;503	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	F	503;497;445;445;445;497;445;457;445;503;35;445	ENSP00000381793:S503F;ENSP00000406716:S497F;ENSP00000338543:S445F;ENSP00000381790:S445F;ENSP00000385189:S445F;ENSP00000385544:S497F;ENSP00000385366:S445F;ENSP00000349818:S457F;ENSP00000385046:S445F;ENSP00000385770:S503F;ENSP00000385748:S445F	ENSP00000338543:S445F	S	-	2	0	GRB10	50639225	1.000000	0.71417	0.445000	0.26908	0.969000	0.65631	9.448000	0.97600	2.546000	0.85860	0.655000	0.94253	TCC	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.527	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GRB10	protein_coding	OTTHUMT00000319157.1	G		-		50671731	-1	no_errors	ENST00000398812	ensembl	human	known	74_37	missense	SNP	0.950	A
TTLL8	164714	genome.wustl.edu	37	22	50485696	50485696	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50485696G>A	ENST00000266182.6	-	4	293	c.294C>T	c.(292-294)taC>taT	p.Y98Y	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Silent_p.Y98Y			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	134					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCCAGAGGAGGTACGGCATCT	0.493																																																	0								ENSG00000138892						163.0	165.0	164.0					22																	50485696		2066	4215	6281	TTLL8	SO:0001819	synonymous_variant	0			-	HGNC			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.294C>T	22.37:g.50485696G>A		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	B5MDV0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TTL/TTLL_fam	p.Y98	ENST00000266182.6	37	c.294		22																																																																																			-	NULL		0.493	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	protein_coding		G	NM_001080447	-		50485696	-1	no_errors	ENST00000266182	ensembl	human	known	74_37	silent	SNP	0.987	A
RARA	5914	genome.wustl.edu	37	17	38511541	38511541	+	Missense_Mutation	SNP	C	C	T	rs138717943		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:38511541C>T	ENST00000254066.5	+	8	1494	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	RARA_ENST00000394081.3_Missense_Mutation_p.R342W|RARA_ENST00000425707.3_Missense_Mutation_p.R250W|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.R347W|RARA_ENST00000394086.3_Missense_Mutation_p.R363W	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	347	Ligand-binding.				apoptotic cell clearance (GO:0043277)|cellular response to estrogen stimulus (GO:0071391)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|chondroblast differentiation (GO:0060591)|embryonic camera-type eye development (GO:0031076)|face development (GO:0060324)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|germ cell development (GO:0007281)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|intracellular estrogen receptor signaling pathway (GO:0030520)|limb development (GO:0060173)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translational initiation (GO:0045947)|negative regulation of tumor necrosis factor production (GO:0032720)|neural tube closure (GO:0001843)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of binding (GO:0051099)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein phosphorylation (GO:0006468)|regulation of myelination (GO:0031641)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|retinoic acid receptor signaling pathway (GO:0048384)|Sertoli cell fate commitment (GO:0060010)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|trachea cartilage development (GO:0060534)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chromatin DNA binding (GO:0031490)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|mRNA 5'-UTR binding (GO:0048027)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein kinase A binding (GO:0051018)|protein kinase B binding (GO:0043422)|receptor binding (GO:0005102)|retinoic acid binding (GO:0001972)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|translation repressor activity, nucleic acid binding (GO:0000900)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GCAGCCGGACCGGGTGGACAT	0.672			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL						OREG0024394	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		17	17q12	5914	"""retinoic acid receptor, alpha"""		L	0								ENSG00000131759						16.0	18.0	17.0					17																	38511541		2193	4286	6479	RARA	SO:0001583	missense	0			-	HGNC	X06538	CCDS11366.1, CCDS42317.1, CCDS45671.1	17q21.1	2014-01-20			ENSG00000131759	ENSG00000131759		"""Nuclear hormone receptors"""	9864	protein-coding gene	gene with protein product		180240				2825036, 8244378	Standard	NM_001145301		Approved	RAR, NR1B1	uc002huk.2	P10276	OTTHUMG00000133328	ENST00000254066.5:c.1039C>T	17.37:g.38511541C>T	ENSP00000254066:p.Arg347Trp	Somatic	0	154	0.00	878	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	78	15.22	B8Y636|P78456|Q13440|Q13441|Q96S41|Q9NQS0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R347W	ENST00000254066.5	37	c.1039	CCDS11366.1	17	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641385	0.67244	.	.	ENSG00000131759	ENST00000254066;ENST00000425707;ENST00000394089;ENST00000394086;ENST00000394081;ENST00000319149;ENST00000420042	D;D;D;D;D	0.96885	-4.16;-4.16;-4.16;-4.16;-4.16	5.35	-1.56	0.08532	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.097541	0.64402	D	0.000007	D	0.97371	0.9140	M	0.69523	2.12	0.27969	N	0.936473	D;D;D	0.89917	1.0;0.998;0.998	D;D;D	0.68192	0.956;0.928;0.928	D	0.94967	0.8113	10	0.87932	D	0	.	18.3935	0.90491	0.2729:0.7271:0.0:0.0	.	250;342;347	B8Y636;F1D8N9;P10276	.;.;RARA_HUMAN	W	347;250;347;363;342;340;234	ENSP00000254066:R347W;ENSP00000389993:R250W;ENSP00000377649:R347W;ENSP00000377648:R363W;ENSP00000377643:R342W	ENSP00000254066:R347W	R	+	1	2	RARA	35765067	0.929000	0.31497	0.067000	0.19924	0.676000	0.39594	3.379000	0.52440	-0.481000	0.06792	-0.274000	0.10170	CGG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt		0.672	RARA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARA	protein_coding	OTTHUMT00000257136.2	C		-		38511541	+1	no_errors	ENST00000254066	ensembl	human	known	74_37	missense	SNP	0.922	T
MCM5	4174	genome.wustl.edu	37	22	35799446	35799446	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:35799446C>T	ENST00000216122.4	+	4	488	c.334C>T	c.(334-336)Cgg>Tgg	p.R112W	MCM5_ENST00000382011.5_Intron	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	112					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGAGGTGACCCGGCCCCGGCC	0.617																																																	0								ENSG00000100297						81.0	84.0	83.0					22																	35799446		2203	4300	6503	MCM5	SO:0001583	missense	0			-	HGNC		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.334C>T	22.37:g.35799446C>T	ENSP00000216122:p.Arg112Trp	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MCM_DNA-dep_ATPase,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM5,prints_MCM_DNA-dep_ATPase	p.R112W	ENST00000216122.4	37	c.334	CCDS13915.1	22	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711155	0.68730	.	.	ENSG00000100297	ENST00000216122;ENST00000444582;ENST00000416905	T;T	0.12255	2.7;2.7	4.99	3.96	0.45880	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	T	0.24928	0.0605	M	0.71581	2.175	0.80722	D	1	D	0.62365	0.991	P	0.50192	0.634	T	0.03641	-1.1017	10	0.39692	T	0.17	-25.9429	14.6272	0.68629	0.147:0.853:0.0:0.0	.	112	P33992	MCM5_HUMAN	W	112;21;144	ENSP00000216122:R112W;ENSP00000393977:R144W	ENSP00000216122:R112W	R	+	1	2	MCM5	34129446	1.000000	0.71417	1.000000	0.80357	0.481000	0.33189	5.375000	0.66173	1.070000	0.40811	0.561000	0.74099	CGG	-	superfamily_NA-bd_OB-fold		0.617	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM5	protein_coding	OTTHUMT00000320661.3	C		-		35799446	+1	no_errors	ENST00000216122	ensembl	human	known	74_37	missense	SNP	1.000	T
FN1	2335	genome.wustl.edu	37	2	216259284	216259284	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:216259284C>T	ENST00000359671.1	-	24	4028	c.3763G>A	c.(3763-3765)Gaa>Aaa	p.E1255K	FN1_ENST00000443816.1_Missense_Mutation_p.E1255K|FN1_ENST00000356005.4_Missense_Mutation_p.E1255K|FN1_ENST00000336916.4_Missense_Mutation_p.E1255K|FN1_ENST00000432072.2_Missense_Mutation_p.E1255K|FN1_ENST00000354785.4_Missense_Mutation_p.E1255K|FN1_ENST00000323926.6_Missense_Mutation_p.E1255K|FN1_ENST00000357867.4_Missense_Mutation_p.E1255K|FN1_ENST00000346544.3_Missense_Mutation_p.E1255K|FN1_ENST00000357009.2_Missense_Mutation_p.E1255K|FN1_ENST00000421182.1_Missense_Mutation_p.E1255K|FN1_ENST00000345488.5_Missense_Mutation_p.E1255K|FN1_ENST00000446046.1_Missense_Mutation_p.E1255K			P02751	FINC_HUMAN	fibronectin 1	1255	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GGGACACTTTCCTTGTCATCC	0.448																																																	0								ENSG00000115414						172.0	167.0	169.0					2																	216259284		2203	4300	6503	FN1	SO:0001583	missense	0			-	HGNC		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3763G>A	2.37:g.216259284C>T	ENSP00000352696:p.Glu1255Lys	Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E1255K	ENST00000359671.1	37	c.3763		2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.730653	0.89390	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	T;T;T;T;T;T;T;T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38;0.38	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.70316	0.3210	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	0.994;1.0;0.998;1.0;1.0;0.999;1.0;0.995;0.997;0.998	D;D;D;D;D;D;D;D;D;D	0.91635	0.992;0.999;0.941;0.996;0.998;0.99;0.998;0.991;0.991;0.997	T	0.69499	-0.5129	10	0.52906	T	0.07	.	19.7145	0.96110	0.0:1.0:0.0:0.0	.	1255;1255;1255;1255;1255;1255;1255;1255;1255;1255	P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.	K	1255	ENSP00000394423:E1255K;ENSP00000323534:E1255K;ENSP00000338200:E1255K;ENSP00000350534:E1255K;ENSP00000346839:E1255K;ENSP00000352696:E1255K;ENSP00000265312:E1255K;ENSP00000273049:E1255K;ENSP00000349509:E1255K;ENSP00000410422:E1255K;ENSP00000415018:E1255K;ENSP00000399538:E1255K;ENSP00000348285:E1255K	ENSP00000265313:E1255K	E	-	1	0	FN1	215967529	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.608000	0.67654	2.654000	0.90174	0.655000	0.94253	GAA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.448	FN1-204	KNOWN	basic	protein_coding	FN1	protein_coding		C	NM_212476	-		216259284	-1	no_errors	ENST00000354785	ensembl	human	known	74_37	missense	SNP	1.000	T
CHRDL1	91851	genome.wustl.edu	37	X	109922648	109922648	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:109922648G>A	ENST00000372045.1	-	11	1269	c.1138C>T	c.(1138-1140)Ctc>Ttc	p.L380F	CHRDL1_ENST00000434224.1_Missense_Mutation_p.L307F|CHRDL1_ENST00000444321.2_Missense_Mutation_p.L387F|CHRDL1_ENST00000218054.4_Missense_Mutation_p.L386F|CHRDL1_ENST00000372042.1_Missense_Mutation_p.L388F|CHRDL1_ENST00000482160.1_Missense_Mutation_p.L308F|CHRDL1_ENST00000394797.4_Missense_Mutation_p.L386F			Q9BU40	CRDL1_HUMAN	chordin-like 1	380					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAGTGCTGGAGAATGCCTAGG	0.453																																																	0								ENSG00000101938						120.0	94.0	103.0					X																	109922648		2203	4300	6503	CHRDL1	SO:0001583	missense	0			-	HGNC	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1138C>T	X.37:g.109922648G>A	ENSP00000361115:p.Leu380Phe	Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.L388F	ENST00000372045.1	37	c.1162		X	.	.	.	.	.	.	.	.	.	.	G	6.872	0.530184	0.13127	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	T;T;T;T;T;T;T	0.35236	2.06;1.32;2.05;2.05;2.33;1.33;2.06	5.04	3.26	0.37387	.	0.000000	0.64402	D	0.000001	T	0.39462	0.1079	N	0.17082	0.46	0.49051	D	0.999744	D;D;D;D;D;D	0.71674	0.998;0.998;0.998;0.998;0.998;0.998	D;D;D;D;D;D	0.78314	0.99;0.991;0.991;0.991;0.991;0.986	T	0.08764	-1.0706	9	.	.	.	-5.765	11.1547	0.48480	0.1573:0.0:0.8427:0.0	.	308;387;367;380;388;307	B4DMP3;E9PGS5;Q59FB2;Q9BU40;D3DUY6;D3YTA8	.;.;.;CRDL1_HUMAN;.;.	F	380;307;386;386;388;308;387	ENSP00000361115:L380F;ENSP00000389627:L307F;ENSP00000218054:L386F;ENSP00000378276:L386F;ENSP00000361112:L388F;ENSP00000418443:L308F;ENSP00000399739:L387F	.	L	-	1	0	CHRDL1	109809304	1.000000	0.71417	0.997000	0.53966	0.083000	0.17756	3.747000	0.55134	0.590000	0.29694	-0.191000	0.12829	CTC	-	NULL		0.453	CHRDL1-001	KNOWN	basic	protein_coding	CHRDL1	protein_coding	OTTHUMT00000057912.1	G	NM_145234	-		109922648	-1	no_errors	ENST00000372042	ensembl	human	known	74_37	missense	SNP	1.000	A
PADI3	51702	genome.wustl.edu	37	1	17607195	17607195	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:17607195G>T	ENST00000375460.3	+	15	1705	c.1665G>T	c.(1663-1665)ctG>ctT	p.L555L	MIR3972_ENST00000582732.1_RNA	NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	555					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTGAGGTGCTGAAGCGGGAGC	0.587																																																	0								ENSG00000142619						101.0	99.0	100.0					1																	17607195		2203	4300	6503	PADI3	SO:0001819	synonymous_variant	0			-	HGNC	AB026831	CCDS179.1	1p36.13	2008-02-05			ENSG00000142619	ENSG00000142619	3.5.3.15	"""Peptidyl arginine deiminases"""	18337	protein-coding gene	gene with protein product		606755				11069618	Standard	NM_016233		Approved	PDI3	uc001bai.3	Q9ULW8	OTTHUMG00000002373	ENST00000375460.3:c.1665G>T	1.37:g.17607195G>T		Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	24	41.46	Q58EY7|Q70SX5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.L555	ENST00000375460.3	37	c.1665	CCDS179.1	1																																																																																			-	pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub		0.587	PADI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI3	protein_coding	OTTHUMT00000006805.1	G		-		17607195	+1	no_errors	ENST00000375460	ensembl	human	known	74_37	silent	SNP	1.000	T
OR4K13	390433	genome.wustl.edu	37	14	20502028	20502028	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:20502028G>A	ENST00000315693.2	-	1	891	c.890C>T	c.(889-891)gCc>gTc	p.A297V	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTTTAATGGCTGCTTTTAC	0.289																																																	0								ENSG00000176253						18.0	19.0	18.0					14																	20502028		2198	4288	6486	OR4K13	SO:0001583	missense	0			-	HGNC		CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.890C>T	14.37:g.20502028G>A	ENSP00000319322:p.Ala297Val	Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	Q6IF13	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A297V	ENST00000315693.2	37	c.890	CCDS32028.1	14	.	.	.	.	.	.	.	.	.	.	.	10.95	1.495862	0.26774	.	.	ENSG00000176253	ENST00000315693	T	0.44881	0.91	3.47	3.47	0.39725	.	0.000000	0.38778	U	0.001565	T	0.48132	0.1483	M	0.81942	2.565	0.19300	N	0.999976	P	0.39748	0.686	B	0.40228	0.323	T	0.53662	-0.8407	10	0.72032	D	0.01	.	13.8604	0.63557	0.0:0.0:1.0:0.0	.	297	Q8NH42	OR4KD_HUMAN	V	297	ENSP00000319322:A297V	ENSP00000319322:A297V	A	-	2	0	OR4K13	19571868	0.368000	0.25031	0.900000	0.35374	0.444000	0.32077	3.084000	0.50143	1.781000	0.52344	0.407000	0.27541	GCC	-	NULL		0.289	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4K13	protein_coding	OTTHUMT00000410344.1	G		-		20502028	-1	no_errors	ENST00000315693	ensembl	human	known	74_37	missense	SNP	0.423	A
ATAD2B	54454	genome.wustl.edu	37	2	24051782	24051782	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:24051782T>A	ENST00000238789.5	-	15	2099	c.1756A>T	c.(1756-1758)Acc>Tcc	p.T586S	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	586						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTCCCTGGTATGGATCTGT	0.343																																																	0								ENSG00000119778						119.0	111.0	114.0					2																	24051782		1838	4082	5920	ATAD2B	SO:0001583	missense	0			-	HGNC	AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.1756A>T	2.37:g.24051782T>A	ENSP00000238789:p.Thr586Ser	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.T586S	ENST00000238789.5	37	c.1756	CCDS46227.1	2	.	.	.	.	.	.	.	.	.	.	T	25.3	4.618896	0.87460	.	.	ENSG00000119778	ENST00000238789;ENST00000458510	D;D	0.94862	-3.54;-2.29	4.7	4.7	0.59300	.	.	.	.	.	D	0.95417	0.8512	L	0.48362	1.52	0.58432	D	0.999996	D	0.60160	0.987	D	0.63113	0.911	D	0.95826	0.8854	9	0.66056	D	0.02	.	14.8793	0.70519	0.0:0.0:0.0:1.0	.	586	Q9ULI0	ATD2B_HUMAN	S	586;24	ENSP00000238789:T586S;ENSP00000392764:T24S	ENSP00000238789:T586S	T	-	1	0	ATAD2B	23905286	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.950000	0.87804	2.063000	0.61619	0.528000	0.53228	ACC	-	superfamily_P-loop_NTPase		0.343	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	protein_coding	OTTHUMT00000324333.1	T	NM_017552	-		24051782	-1	no_errors	ENST00000238789	ensembl	human	known	74_37	missense	SNP	1.000	A
MYH4	4622	genome.wustl.edu	37	17	10363547	10363547	+	Silent	SNP	G	G	A	rs370061303		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:10363547G>A	ENST00000255381.2	-	13	1349	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	413	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTTGGTTACGAACTCATTGC	0.433																																																	0								ENSG00000264424	G		0,4406		0,0,2203	123.0	111.0	115.0		1239	-11.1	0.0	17		115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	MYH4	NM_017533.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		413/1940	10363547	1,13005	2203	4300	6503	MYH4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1239C>T	17.37:g.10363547G>A		Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	19	44.12		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.F413	ENST00000255381.2	37	c.1239	CCDS11154.1	17																																																																																			-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.433	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	protein_coding	OTTHUMT00000252731.1	G	NM_017533	-		10363547	-1	no_errors	ENST00000255381	ensembl	human	known	74_37	silent	SNP	0.000	A
UTP3	57050	genome.wustl.edu	37	4	71555131	71555131	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:71555131C>G	ENST00000254803.2	+	1	936	c.737C>G	c.(736-738)cCa>cGa	p.P246R		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	246					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAGCTGGAGCCATTGTTAGAG	0.438																																																	0								ENSG00000132467						85.0	84.0	84.0					4																	71555131		2203	4300	6503	UTP3	SO:0001583	missense	0			-	HGNC	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.737C>G	4.37:g.71555131C>G	ENSP00000254803:p.Pro246Arg	Somatic	0	27	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q6FI82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sas10_C_dom,pfam_Sas10/Utp3/C1D	p.P246R	ENST00000254803.2	37	c.737	CCDS3546.1	4	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573940	0.65765	.	.	ENSG00000132467	ENST00000254803	T	0.38240	1.15	5.44	5.44	0.79542	.	0.167126	0.53938	D	0.000054	T	0.69070	0.3070	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75382	-0.3337	10	0.62326	D	0.03	-28.2254	19.2714	0.94011	0.0:1.0:0.0:0.0	.	246	Q9NQZ2	SAS10_HUMAN	R	246	ENSP00000254803:P246R	ENSP00000254803:P246R	P	+	2	0	UTP3	71773995	1.000000	0.71417	0.971000	0.41717	0.972000	0.66771	4.668000	0.61568	2.542000	0.85734	0.603000	0.83216	CCA	-	pfam_Sas10/Utp3/C1D		0.438	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP3	protein_coding	OTTHUMT00000252163.2	C	NM_020368	-		71555131	+1	no_errors	ENST00000254803	ensembl	human	known	74_37	missense	SNP	0.993	G
SLCO1A2	6579	genome.wustl.edu	37	12	21428334	21428334	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21428334G>A	ENST00000307378.6	-	14	2355	c.1635C>T	c.(1633-1635)tcC>tcT	p.S545S	SLCO1A2_ENST00000537524.1_Silent_p.S413S|SLCO1A2_ENST00000458504.1_Silent_p.S413S|SLCO1A2_ENST00000390670.3_Silent_p.S543S|SLCO1A2_ENST00000452078.1_Silent_p.S545S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	545					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.S545>?(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CCACACCAAGGGACTTCTCTT	0.264																																																	1	Complex(1)	skin(1)						ENSG00000084453						25.0	23.0	24.0					12																	21428334		2200	4288	6488	SLCO1A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1635C>T	12.37:g.21428334G>A		Somatic	0	128	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	Q9UGP7|Q9UL38	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S545	ENST00000307378.6	37	c.1635	CCDS8686.1	12																																																																																			-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.264	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	protein_coding	OTTHUMT00000343648.3	G	NM_021094	-		21428334	-1	no_errors	ENST00000307378	ensembl	human	known	74_37	silent	SNP	0.937	A
PCDHB10	56126	genome.wustl.edu	37	5	140572571	140572571	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140572571G>A	ENST00000239446.4	+	1	630	c.446G>A	c.(445-447)gGg>gAg	p.G149E		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	149	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGCTGAAGGGACAGCATTT	0.408																																																	0								ENSG00000120324						78.0	88.0	85.0					5																	140572571		2203	4299	6502	PCDHB10	SO:0001583	missense	0			-	HGNC	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.446G>A	5.37:g.140572571G>A	ENSP00000239446:p.Gly149Glu	Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	Q96T99	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G149E	ENST00000239446.4	37	c.446	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610229	0.46527	.	.	ENSG00000120324	ENST00000239446	T	0.04454	3.62	3.52	3.52	0.40303	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.20981	0.0505	M	0.91663	3.23	0.42109	D	0.991375	D	0.59767	0.986	P	0.59012	0.85	T	0.02844	-1.1103	9	0.72032	D	0.01	.	10.1886	0.43013	0.1012:0.0:0.8988:0.0	.	149	Q9UN67	PCDBA_HUMAN	E	149	ENSP00000239446:G149E	ENSP00000239446:G149E	G	+	2	0	PCDHB10	140552755	1.000000	0.71417	0.069000	0.20011	0.416000	0.31233	4.600000	0.61083	1.990000	0.58119	0.556000	0.70494	GGG	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.408	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	protein_coding	OTTHUMT00000251821.1	G	NM_018930	-		140572571	+1	no_errors	ENST00000239446	ensembl	human	known	74_37	missense	SNP	0.938	A
HPS4	89781	genome.wustl.edu	37	22	26849247	26849247	+	Silent	SNP	G	G	A	rs138189133	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:26849247G>A	ENST00000398145.2	-	14	2695	c.2079C>T	c.(2077-2079)tcC>tcT	p.S693S	HPS4_ENST00000402105.3_Silent_p.S688S|HPS4_ENST00000493455.2_Intron|HPS4_ENST00000398141.1_Silent_p.S706S|HPS4_ENST00000336873.5_Silent_p.S693S	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	693					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTGCTTTGCCGGAGAGGCTGA	0.582									Hermansky-Pudlak syndrome				G|||	30	0.00599042	0.0	0.0	5008	,	,		16855	0.0		0.0	False		,,,				2504	0.0307																0								ENSG00000100099	G	,	0,4406		0,0,2203	134.0	134.0	134.0		2079,2064	-9.2	0.0	22	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	HPS4	NM_022081.4,NM_152841.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	693/709,688/704	26849247	1,13005	2203	4300	6503	HPS4	SO:0001819	synonymous_variant	0	Familial Cancer Database	HPS, HPS1-8	-	HGNC		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.2079C>T	22.37:g.26849247G>A		Somatic	0	82	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S706	ENST00000398145.2	37	c.2118	CCDS13835.1	22																																																																																			-	NULL		0.582	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPS4	protein_coding	OTTHUMT00000320778.1	G	NM_022081	rs138189133		26849247	-1	no_errors	ENST00000398141	ensembl	human	known	74_37	silent	SNP	0.000	A
SEC16B	89866	genome.wustl.edu	37	1	177936955	177936955	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:177936955C>T	ENST00000308284.6	-	2	251	c.162G>A	c.(160-162)ggG>ggA	p.G54G	SEC16B_ENST00000464631.2_Silent_p.G54G|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	54	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCTGGGGGCTCCCACGGTTGT	0.592																																																	0								ENSG00000120341						70.0	75.0	74.0					1																	177936955		2067	4229	6296	SEC16B	SO:0001819	synonymous_variant	0			-	HGNC	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.162G>A	1.37:g.177936955C>T		Somatic	0	92	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	34	29.17	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G54	ENST00000308284.6	37	c.162	CCDS44281.1	1																																																																																			-	NULL		0.592	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC16B	protein_coding	OTTHUMT00000084773.16	C	NM_033127	-		177936955	-1	no_errors	ENST00000308284	ensembl	human	known	74_37	silent	SNP	0.174	T
EIF3L	51386	genome.wustl.edu	37	22	38266316	38266316	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:38266316C>T	ENST00000412331.2	+	8	1295	c.713C>T	c.(712-714)tCc>tTc	p.S238F	EIF3L_ENST00000381683.6_Missense_Mutation_p.S190F|EIF3L_ENST00000476955.1_3'UTR|EIF3L_ENST00000406934.1_Missense_Mutation_p.S140F	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L											kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GTAGACAAATCCAACATCAAC	0.498																																																	0								ENSG00000100129						102.0	86.0	92.0					22																	38266316		2203	4300	6503	EIF3L	SO:0001583	missense	0			-	HGNC	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.713C>T	22.37:g.38266316C>T	ENSP00000416892:p.Ser238Phe	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	16	46.67		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_eIF3l	p.S238F	ENST00000412331.2	37	c.713	CCDS13960.1	22	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394056	0.83011	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.58060	0.36;0.36;0.36	5.03	5.03	0.67393	.	0.216313	0.52532	D	0.000073	T	0.80549	0.4644	M	0.93420	3.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.86081	0.1544	10	0.87932	D	0	-30.2824	18.7242	0.91708	0.0:1.0:0.0:0.0	.	190;140;238;281	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	F	238;281;190;205;140	ENSP00000416892:S238F;ENSP00000371099:S190F;ENSP00000384634:S140F	ENSP00000262832:S205F	S	+	2	0	EIF3L	36596262	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	6.064000	0.71169	2.487000	0.83934	0.462000	0.41574	TCC	-	pfam_eIF3l		0.498	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3L	protein_coding	OTTHUMT00000319551.2	C	NM_016091	-		38266316	+1	no_errors	ENST00000412331	ensembl	human	known	74_37	missense	SNP	1.000	T
C20orf24	55969	genome.wustl.edu	37	20	35236317	35236318	+	Intron	DEL	TG	TG	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	TG	TG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:35236317_35236318delTG	ENST00000373852.5	+	2	353				TGIF2-C20orf24_ENST00000558530.1_Intron|C20orf24_ENST00000344795.3_Intron|C20orf24_ENST00000342422.3_Intron			Q9BUV8	CT024_HUMAN	chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCTCTGGAGCTGTGTGTGTGTG	0.47																																																	0								ENSG00000101084																																			C20orf24	SO:0001627	intron_variant	0				HGNC	AF112213	CCDS13279.1, CCDS13280.1, CCDS56190.1	20q11.23	2011-01-25			ENSG00000101084	ENSG00000101084			15870	protein-coding gene	gene with protein product						15178406	Standard	NM_018840		Approved	PNAS-11, RIP5		Q9BUV8	OTTHUMG00000032384	ENST00000373852.5:c.218+96TG>-	20.37:g.35236327_35236328delTG		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	33	8.33	E1P5U0|O00605|Q5QPG6|Q5QPG7|Q9BT03|Q9BZU7|Q9UI05	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.C85fs	ENST00000373852.5	37	c.243_244	CCDS56190.1	20																																																																																			-	NULL		0.470	C20orf24-001	KNOWN	basic|CCDS	protein_coding	C20orf24	protein_coding	OTTHUMT00000079006.1	TG	NM_018840			35236318	+1	no_errors	ENST00000483815	ensembl	human	known	74_37	frame_shift_del	DEL	0.096:0.082	-
TANC2	26115	genome.wustl.edu	37	17	61498206	61498206	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:61498206C>T	ENST00000424789.2	+	25	4867	c.4863C>T	c.(4861-4863)gcC>gcT	p.A1621A	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.A1631A	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1621					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCCAGCCGTCCATTCAA	0.572																																																	0								ENSG00000170921						75.0	78.0	77.0					17																	61498206		2075	4216	6291	TANC2	SO:0001819	synonymous_variant	0			-	HGNC	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.4863C>T	17.37:g.61498206C>T		Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A1621	ENST00000424789.2	37	c.4863	CCDS45754.1	17																																																																																			-	NULL		0.572	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	protein_coding	OTTHUMT00000444765.1	C		-		61498206	+1	no_errors	ENST00000424789	ensembl	human	known	74_37	silent	SNP	0.183	T
OR9Q2	219957	genome.wustl.edu	37	11	57958889	57958889	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:57958889G>A	ENST00000311591.3	+	1	984	c.927G>A	c.(925-927)aaG>aaA	p.K309K		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	309						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GCAAATCAAAGCCTGCTAGAA	0.448																																																	0								ENSG00000186513						53.0	55.0	54.0					11																	57958889		2201	4296	6497	OR9Q2	SO:0001819	synonymous_variant	0			-	HGNC	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.927G>A	11.37:g.57958889G>A		Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K309	ENST00000311591.3	37	c.927	CCDS31544.1	11																																																																																			-	NULL		0.448	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q2	protein_coding	OTTHUMT00000394540.1	G	NM_001005283	-		57958889	+1	no_errors	ENST00000311591	ensembl	human	known	74_37	silent	SNP	0.000	A
PARVG	64098	genome.wustl.edu	37	22	44586469	44586469	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:44586469C>T	ENST00000444313.3	+	7	911	c.427C>T	c.(427-429)Ctt>Ttt	p.L143F	PARVG_ENST00000415224.1_Missense_Mutation_p.L143F|PARVG_ENST00000422871.1_Missense_Mutation_p.L143F	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	143	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				CCTGCACCTCCTTGTGGCCCT	0.607																																																	0								ENSG00000138964						107.0	86.0	93.0					22																	44586469		2203	4300	6503	PARVG	SO:0001583	missense	0			-	HGNC	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.427C>T	22.37:g.44586469C>T	ENSP00000391583:p.Leu143Phe	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.L143F	ENST00000444313.3	37	c.427	CCDS14057.1	22	.	.	.	.	.	.	.	.	.	.	C	14.07	2.425180	0.43020	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	T;T;T	0.68903	-0.36;-0.36;-0.36	3.46	2.41	0.29592	Calponin homology domain (4);	0.000000	0.64402	D	0.000012	T	0.81123	0.4757	M	0.88450	2.955	0.48762	D	0.999701	D	0.89917	1.0	D	0.87578	0.998	T	0.80200	-0.1481	10	0.51188	T	0.08	-3.1816	8.3097	0.32064	0.4285:0.5715:0.0:0.0	.	143	Q9HBI0	PARVG_HUMAN	F	143	ENSP00000391453:L143F;ENSP00000391583:L143F;ENSP00000416761:L143F	ENSP00000349378:L143F	L	+	1	0	PARVG	42917802	0.995000	0.38212	0.983000	0.44433	0.603000	0.37013	2.289000	0.43523	0.759000	0.33084	-0.314000	0.08810	CTT	-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain		0.607	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVG	protein_coding	OTTHUMT00000318238.4	C	NM_022141	-		44586469	+1	no_errors	ENST00000415224	ensembl	human	known	74_37	missense	SNP	0.990	T
JAG2	3714	genome.wustl.edu	37	14	105618337	105618337	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:105618337G>A	ENST00000331782.3	-	7	1380	c.977C>T	c.(976-978)gCc>gTc	p.A326V	JAG2_ENST00000347004.2_Missense_Mutation_p.A326V|RP11-44N21.4_ENST00000548203.1_RNA	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	326	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				auditory receptor cell fate commitment (GO:0009912)|cell cycle (GO:0007049)|cell differentiation (GO:0030154)|epithelial cell apoptotic process involved in palatal shelf morphogenesis (GO:1990134)|gamma-delta T cell differentiation (GO:0042492)|in utero embryonic development (GO:0001701)|morphogenesis of embryonic epithelium (GO:0016331)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|respiratory system process (GO:0003016)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|T cell differentiation (GO:0030217)|thymic T cell selection (GO:0045061)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GTCAGGCTCGGCGTTGATGCA	0.662																																																	0								ENSG00000184916						55.0	57.0	57.0					14																	105618337		2203	4300	6503	JAG2	SO:0001583	missense	0			-	HGNC	AF020201	CCDS9998.1, CCDS9999.1	14q32	2008-08-01			ENSG00000184916	ENSG00000184916			6189	protein-coding gene	gene with protein product		602570				9315665, 10662552	Standard	NM_002226		Approved		uc001yqg.4	Q9Y219	OTTHUMG00000140172	ENST00000331782.3:c.977C>T	14.37:g.105618337G>A	ENSP00000328169:p.Ala326Val	Somatic	0	202	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	77	19.79	Q9UE17|Q9UE99|Q9UNK8|Q9Y6P9|Q9Y6Q0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C	p.A326V	ENST00000331782.3	37	c.977	CCDS9998.1	14	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125838	0.37533	.	.	ENSG00000184916	ENST00000331782;ENST00000347004	T;D	0.91464	-0.25;-2.85	3.23	2.32	0.28847	EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.272984	0.34460	N	0.003956	T	0.79997	0.4543	N	0.12182	0.205	0.32592	N	0.527065	B;B	0.10296	0.001;0.003	B;B	0.15484	0.008;0.013	T	0.76105	-0.3081	10	0.66056	D	0.02	.	8.1902	0.31363	0.1282:0.0:0.8718:0.0	.	326;326	Q9Y219-2;Q9Y219	.;JAG2_HUMAN	V	326	ENSP00000328169:A326V;ENSP00000328566:A326V	ENSP00000328169:A326V	A	-	2	0	JAG2	104689382	1.000000	0.71417	0.797000	0.32132	0.258000	0.26162	4.606000	0.61126	0.468000	0.27243	0.290000	0.19541	GCC	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.662	JAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG2	protein_coding	OTTHUMT00000276506.2	G		-		105618337	-1	no_errors	ENST00000331782	ensembl	human	known	74_37	missense	SNP	0.989	A
EDEM2	55741	genome.wustl.edu	37	20	33711758	33711758	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:33711758G>A	ENST00000374492.3	-	9	1154	c.1049C>T	c.(1048-1050)cCg>cTg	p.P350L	EDEM2_ENST00000541621.1_Missense_Mutation_p.P129L|EDEM2_ENST00000540582.1_Missense_Mutation_p.P309L|EDEM2_ENST00000374491.3_Missense_Mutation_p.P313L|EDEM2_ENST00000542871.1_Missense_Mutation_p.P74L	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	350					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTAGAATTCCGGGAGCCCCCC	0.532																																					Esophageal Squamous(51;906 1021 24535 36410 39145)												0								ENSG00000088298						104.0	92.0	96.0					20																	33711758		2203	4300	6503	EDEM2	SO:0001583	missense	0			-	HGNC	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.1049C>T	20.37:g.33711758G>A	ENSP00000363616:p.Pro350Leu	Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.P350L	ENST00000374492.3	37	c.1049	CCDS13247.1	20	.	.	.	.	.	.	.	.	.	.	G	35	5.547583	0.96488	.	.	ENSG00000088298	ENST00000374491;ENST00000374492;ENST00000541621;ENST00000542871;ENST00000540582	T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.995;1.0;1.0;1.0	D	0.93671	0.6990	10	0.87932	D	0	-9.6464	20.3248	0.98698	0.0:0.0:1.0:0.0	.	309;129;313;350	F5GZ44;G3V1Q0;Q9BV94-2;Q9BV94	.;.;.;EDEM2_HUMAN	L	313;350;129;74;309	ENSP00000363615:P313L;ENSP00000363616:P350L;ENSP00000443528:P129L;ENSP00000441642:P74L;ENSP00000441548:P309L	ENSP00000363615:P313L	P	-	2	0	EDEM2	33175419	1.000000	0.71417	0.996000	0.52242	0.934000	0.57294	9.869000	0.99810	2.818000	0.97014	0.655000	0.94253	CCG	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.532	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM2	protein_coding	OTTHUMT00000078842.2	G	NM_018217	-		33711758	-1	no_errors	ENST00000374492	ensembl	human	known	74_37	missense	SNP	1.000	A
OR11H6	122748	genome.wustl.edu	37	14	20692861	20692861	+	Nonstop_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:20692861A>T	ENST00000315519.2	+	1	1071	c.993A>T	c.(991-993)tgA>tgT	p.*331C		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCAAAACTGAGATATCTTTG	0.373																																																	0								ENSG00000176219						58.0	64.0	62.0					14																	20692861		2192	4280	6472	OR11H6	SO:0001578	stop_lost	0			-	HGNC		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.993A>T	14.37:g.20692861A>T	ENSP00000319071:p.*331Cysext*18	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q6IF08	Nonstop_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.*331C	ENST00000315519.2	37	c.993	CCDS32033.1	14	.	.	.	.	.	.	.	.	.	.	A	2.050	-0.417848	0.04766	.	.	ENSG00000176219	ENST00000315519	.	.	.	5.49	4.35	0.52113	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.2222	0.15375	0.7585:0.0:0.0845:0.1571	.	.	.	.	C	331	.	.	X	+	3	0	OR11H6	19762701	0.003000	0.15002	0.737000	0.30932	0.018000	0.09664	0.297000	0.19101	1.021000	0.39600	-0.270000	0.10280	TGA	-	NULL		0.373	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11H6	protein_coding	OTTHUMT00000410676.1	A		-		20692861	+1	no_errors	ENST00000315519	ensembl	human	known	74_37	nonstop	SNP	0.588	T
PCNX	22990	genome.wustl.edu	37	14	71444585	71444585	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:71444585G>A	ENST00000304743.2	+	6	1977	c.1531G>A	c.(1531-1533)Gca>Aca	p.A511T	PCNX_ENST00000439984.3_Missense_Mutation_p.A511T|PCNX_ENST00000238570.5_Missense_Mutation_p.A511T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	511						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGGGAACACTGCAGAAAACAA	0.458																																																	0								ENSG00000100731						74.0	79.0	77.0					14																	71444585		2203	4300	6503	PCNX	SO:0001583	missense	0			-	HGNC	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1531G>A	14.37:g.71444585G>A	ENSP00000304192:p.Ala511Thr	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pecanex	p.A511T	ENST00000304743.2	37	c.1531	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	G	0.680	-0.798581	0.02841	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.11277	3.27;3.27;2.79	4.47	-1.33	0.09172	.	0.828453	0.10998	N	0.610879	T	0.05318	0.0141	N	0.19112	0.55	0.09310	N	1	B;B;B	0.12630	0.0;0.0;0.006	B;B;B	0.10450	0.001;0.001;0.005	T	0.42103	-0.9471	10	0.25751	T	0.34	.	2.5296	0.04700	0.1922:0.0993:0.4472:0.2613	.	511;511;511	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	T	511	ENSP00000304192:A511T;ENSP00000238570:A511T;ENSP00000396617:A511T	ENSP00000238570:A511T	A	+	1	0	PCNX	70514338	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	0.999000	0.29757	-0.517000	0.06461	-1.938000	0.00498	GCA	-	NULL		0.458	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	protein_coding	OTTHUMT00000412479.1	G	NM_014982	-		71444585	+1	no_errors	ENST00000304743	ensembl	human	known	74_37	missense	SNP	0.000	A
WDR72	256764	genome.wustl.edu	37	15	53809908	53809908	+	Nonsense_Mutation	SNP	G	G	T	rs141490508		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:53809908G>T	ENST00000396328.1	-	20	3536	c.3297C>A	c.(3295-3297)tgC>tgA	p.C1099*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.C1096*|WDR72_ENST00000567224.1_5'UTR|WDR72_ENST00000360509.5_Nonsense_Mutation_p.C1099*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.C1109*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	1099										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGACACCTTGCAGGGGCAGA	0.363																																																	0								ENSG00000166415						137.0	128.0	131.0					15																	53809908		2194	4293	6487	WDR72	SO:0001587	stop_gained	0			-	HGNC	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.3297C>A	15.37:g.53809908G>T	ENSP00000379619:p.Cys1099*	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	17	15.00	Q7Z3I3|Q8N8X2	Nonsense_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	p.C1099*	ENST00000396328.1	37	c.3297	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.507653	0.98325	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.85	2.54	0.30619	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.32111	N	0.589329	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.5051	0.39042	0.3119:0.0:0.6881:0.0	.	.	.	.	X	1099	.	ENSP00000353699:C1099X	C	-	3	2	WDR72	51597200	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.129000	0.31381	0.823000	0.34589	0.585000	0.79938	TGC	-	NULL		0.363	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	protein_coding	OTTHUMT00000254893.2	G	NM_182758	-		53809908	-1	no_errors	ENST00000360509	ensembl	human	known	74_37	nonsense	SNP	1.000	T
ITGAV	3685	genome.wustl.edu	37	2	187521068	187521068	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:187521068G>T	ENST00000261023.3	+	17	1933	c.1659G>T	c.(1657-1659)aaG>aaT	p.K553N	ITGAV_ENST00000433736.2_Missense_Mutation_p.K507N|ITGAV_ENST00000374907.3_Missense_Mutation_p.K517N|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	553					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	GTCACTCCAAGAACATGACTA	0.443																																					Melanoma(58;108 1995 6081)												0								ENSG00000138448						246.0	233.0	238.0					2																	187521068		2203	4300	6503	ITGAV	SO:0001583	missense	0			-	HGNC		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1659G>T	2.37:g.187521068G>T	ENSP00000261023:p.Lys553Asn	Somatic	0	35	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.K553N	ENST00000261023.3	37	c.1659	CCDS2292.1	2	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412224	0.62511	.	.	ENSG00000138448	ENST00000261023;ENST00000374907;ENST00000433736	T;T;T	0.46451	0.87;0.87;0.87	5.41	5.41	0.78517	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.64260	0.2582	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.962;0.999	T	0.64820	-0.6317	10	0.56958	D	0.05	.	19.2	0.93708	0.0:0.0:1.0:0.0	.	507;517;553	E7EWZ6;P06756-2;P06756	.;.;ITAV_HUMAN	N	553;517;507	ENSP00000261023:K553N;ENSP00000364042:K517N;ENSP00000404291:K507N	ENSP00000261023:K553N	K	+	3	2	ITGAV	187229313	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.125000	0.57931	2.541000	0.85698	0.455000	0.32223	AAG	-	pfam_Integrin_alpha-2		0.443	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	protein_coding	OTTHUMT00000255882.2	G	NM_002210	-		187521068	+1	no_errors	ENST00000261023	ensembl	human	known	74_37	missense	SNP	1.000	T
OR11A1	26531	genome.wustl.edu	37	6	29395394	29395394	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:29395394C>T	ENST00000377149.1	-	5	497	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K	OR11A1_ENST00000377148.1_Missense_Mutation_p.E9K|OR11A1_ENST00000377147.2_Missense_Mutation_p.E9K|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						GTAATAGTTTCGTTTCCTGTG	0.393																																																	0								ENSG00000204694						60.0	58.0	59.0					6																	29395394		1509	2709	4218	OR11A1	SO:0001583	missense	0			-	HGNC		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.25G>A	6.37:g.29395394C>T	ENSP00000366354:p.Glu9Lys	Somatic	0	25	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	0	100.00	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.E9K	ENST00000377149.1	37	c.25	CCDS34363.1	6	.	.	.	.	.	.	.	.	.	.	c	6.981	0.551005	0.13374	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.00333	8.07;8.07;8.07	3.66	-0.976	0.10286	.	.	.	.	.	T	0.00039	0.0001	N	0.17248	0.465	0.09310	N	1	B	0.17038	0.02	B	0.06405	0.002	T	0.04537	-1.0944	9	0.38643	T	0.18	0.5553	10.4396	0.44457	0.0:0.5807:0.2074:0.212	.	9	Q9GZK7	O11A1_HUMAN	K	9	ENSP00000366353:E9K;ENSP00000366354:E9K;ENSP00000366352:E9K	ENSP00000366352:E9K	E	-	1	0	OR11A1	29503373	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	-0.993000	0.03720	-1.263000	0.02455	-2.938000	0.00087	GAA	-	NULL		0.393	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OR11A1	protein_coding	OTTHUMT00000193778.1	C		-		29395394	-1	no_errors	ENST00000377147	ensembl	human	known	74_37	missense	SNP	0.001	T
FIGF	2277	genome.wustl.edu	37	X	15381437	15381437	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:15381437G>A	ENST00000297904.3	-	2	524	c.95C>T	c.(94-96)tCa>tTa	p.S32L		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	32					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|induction of positive chemotaxis (GO:0050930)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell chemotaxis (GO:0060754)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|platelet-derived growth factor receptor binding (GO:0005161)|vascular endothelial growth factor receptor binding (GO:0005172)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					GGACTGAGATGATCGCTTAAA	0.353																																																	0								ENSG00000165197						64.0	54.0	57.0					X																	15381437		2203	4300	6503	FIGF	SO:0001583	missense	0			-	HGNC	AJ000185	CCDS14166.1	Xp22.31	2008-02-05			ENSG00000165197	ENSG00000165197			3708	protein-coding gene	gene with protein product		300091		VEGFD		9479493	Standard	NM_004469		Approved	VEGF-D	uc004cwt.2	O43915	OTTHUMG00000021175	ENST00000297904.3:c.95C>T	X.37:g.15381437G>A	ENSP00000297904:p.Ser32Leu	Somatic	0	12	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	4	63.64	B2R7Z3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.S32L	ENST00000297904.3	37	c.95	CCDS14166.1	X	.	.	.	.	.	.	.	.	.	.	G	11.56	1.676353	0.29783	.	.	ENSG00000165197	ENST00000297904	.	.	.	5.48	4.62	0.57501	.	0.934879	0.09095	N	0.849392	T	0.41050	0.1142	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29119	-1.0022	9	0.33940	T	0.23	-23.1056	12.3647	0.55222	0.083:0.0:0.917:0.0	.	32	O43915	VEGFD_HUMAN	L	32	.	ENSP00000297904:S32L	S	-	2	0	FIGF	15291358	0.979000	0.34478	0.001000	0.08648	0.013000	0.08279	3.846000	0.55888	1.081000	0.41110	0.538000	0.68166	TCA	-	NULL		0.353	FIGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGF	protein_coding	OTTHUMT00000055859.1	G	NM_004469	-		15381437	-1	no_errors	ENST00000297904	ensembl	human	known	74_37	missense	SNP	0.021	A
RGS7	6000	genome.wustl.edu	37	1	240964009	240964009	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:240964009G>A	ENST00000407727.1	-	17	1425	c.1426C>T	c.(1426-1428)Cct>Tct	p.P476S	RGS7_ENST00000401882.1_Missense_Mutation_p.P405S|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366565.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000446183.2_Missense_Mutation_p.P374S|RGS7_ENST00000348120.2_Missense_Mutation_p.P405S|RGS7_ENST00000331110.7_Missense_Mutation_p.P432S|RGS7_ENST00000366563.1_Missense_Mutation_p.P458S			P49802	RGS7_HUMAN	regulator of G-protein signaling 7	476					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GGGAAAATAGGGATGTTTCTG	0.368																																																	0								ENSG00000182901																																			RGS7	SO:0001583	missense	0			-	HGNC	BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.1426C>T	1.37:g.240964009G>A	ENSP00000384428:p.Pro476Ser	Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.P476S	ENST00000407727.1	37	c.1426		1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.574829	0.45902	.	.	ENSG00000182901	ENST00000331110;ENST00000366563;ENST00000440928;ENST00000348120;ENST00000446183;ENST00000407727;ENST00000401882	T;T;T;T;T;T;T	0.35236	1.32;1.37;1.39;1.39;1.33;1.57;1.39	5.51	5.51	0.81932	.	.	.	.	.	T	0.60508	0.2274	.	.	.	0.42665	D	0.993496	B;D;D;D;B	0.57899	0.013;0.967;0.981;0.981;0.035	B;P;D;D;B	0.67900	0.006;0.901;0.954;0.954;0.012	T	0.62946	-0.6746	8	0.66056	D	0.02	.	16.9365	0.86204	0.0:0.0:1.0:0.0	.	374;432;405;458;476	B7Z223;B7Z257;P49802-4;P49802-3;P49802	.;.;.;.;RGS7_HUMAN	S	432;458;307;405;374;476;405	ENSP00000331485:P432S;ENSP00000355521:P458S;ENSP00000404399:P307S;ENSP00000341242:P405S;ENSP00000390138:P374S;ENSP00000384428:P476S;ENSP00000385508:P405S	ENSP00000331485:P432S	P	-	1	0	RGS7	239030632	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.687000	0.74552	2.736000	0.93811	0.655000	0.94253	CCT	-	NULL		0.368	RGS7-204	KNOWN	basic	protein_coding	RGS7	protein_coding		G	NM_002924	-		240964009	-1	no_errors	ENST00000407727	ensembl	human	known	74_37	missense	SNP	1.000	A
KRT33B	3884	genome.wustl.edu	37	17	39525832	39525832	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:39525832C>T	ENST00000251646.3	-	1	220	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	57	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GCATAGTCTCCTTCTCGCTGC	0.627																																																	0								ENSG00000131738						79.0	78.0	78.0					17																	39525832		2203	4300	6503	KRT33B	SO:0001819	synonymous_variant	0			-	HGNC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.171G>A	17.37:g.39525832C>T		Somatic	0	197	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	70	27.84	O76010	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,prints_Keratin_I	p.K57	ENST00000251646.3	37	c.171	CCDS11389.1	17																																																																																			-	pfam_IF		0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	protein_coding	OTTHUMT00000257292.1	C	NM_002279	-		39525832	-1	no_errors	ENST00000251646	ensembl	human	known	74_37	silent	SNP	1.000	T
LINC00910	100130581	genome.wustl.edu	37	17	41465842	41465842	+	lincRNA	SNP	G	G	T	rs554458757	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:41465842G>T	ENST00000606190.1	-	0	0									long intergenic non-protein coding RNA 910																		AGAGACAGGGGGTGAAAACAA	0.562																																																	0								ENSG00000188825																																			LINC00910			0			-	HGNC	BC035366		17q21.31	2013-05-21			ENSG00000188825	ENSG00000188825		"""Long non-coding RNAs"""	44361	non-coding RNA	RNA, long non-coding							Standard	NR_027412		Approved				OTTHUMG00000180880		17.37:g.41465842G>T		Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	36	33.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000606190.1	37	NULL		17																																																																																			-	-		0.562	LINC00910-201	KNOWN	basic	snRNA	LINC00910	lincRNA		G	NR_027412	-		41465842	-1	no_errors	ENST00000341011	ensembl	human	known	74_37	rna	SNP	0.003	T
NFE2L2	4780	genome.wustl.edu	37	2	178150092	178150092	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:178150092G>A	ENST00000464747.1	-	4	499				AC074286.1_ENST00000397057.2_RNA			Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2						cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			taagcctacagaacttcccag	0.532			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0								ENSG00000213963																																			AC074286.1	SO:0001627	intron_variant	0			-	Clone_based_vega_gene		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000464747.1:c.2+37874C>T	2.37:g.178150092G>A		Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000464747.1	37	NULL	CCDS46457.1	2																																																																																			-	-		0.532	NFE2L2-003	KNOWN	basic|CCDS	protein_coding	LOC100130691	protein_coding	OTTHUMT00000257754.2	G	NM_006164	-		178150092	-1	no_errors	ENST00000397057	ensembl	human	known	74_37	rna	SNP	0.000	A
OR4Q3	441669	genome.wustl.edu	37	14	20216001	20216001	+	Missense_Mutation	SNP	C	C	T	rs534518521	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:20216001C>T	ENST00000331723.1	+	1	415	c.415C>T	c.(415-417)Ccc>Tcc	p.P139S		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	139						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCATGAACCCCCAGCTATG	0.502																																																	0								ENSG00000182652						109.0	114.0	112.0					14																	20216001		2200	4300	6500	OR4Q3	SO:0001583	missense	0			-	HGNC	AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.415C>T	14.37:g.20216001C>T	ENSP00000330049:p.Pro139Ser	Somatic	0	103	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	Q6IEX4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P139S	ENST00000331723.1	37	c.415	CCDS32020.1	14	.	.	.	.	.	.	.	.	.	.	.	0.783	-0.761766	0.02996	.	.	ENSG00000182652	ENST00000331723	T	0.00495	6.99	4.36	2.46	0.29980	GPCR, rhodopsin-like superfamily (1);	1.224670	0.06201	U	0.683327	T	0.00496	0.0016	L	0.46947	1.48	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49244	-0.8960	10	0.52906	T	0.07	.	3.4983	0.07664	0.2103:0.5764:0.0:0.2133	.	139	Q8NH05	OR4Q3_HUMAN	S	139	ENSP00000330049:P139S	ENSP00000330049:P139S	P	+	1	0	OR4Q3	19285841	0.000000	0.05858	0.808000	0.32385	0.057000	0.15508	-0.191000	0.09601	0.429000	0.26202	0.406000	0.27484	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4Q3	protein_coding	OTTHUMT00000409818.2	C		-		20216001	+1	no_errors	ENST00000331723	ensembl	human	known	74_37	missense	SNP	0.000	T
TBC1D3P5	440419	genome.wustl.edu	37	17	25749685	25749685	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:25749685G>A	ENST00000586223.1	+	0	1278					NR_033892.1				TBC1 domain family, member 3 pseudogene 5																		GGATCGATATGGAGTCAAGTA	0.552																																																	0								ENSG00000266433																																			TBC1D3P5			0			-	HGNC			17q11.1	2014-03-20			ENSG00000266433	ENSG00000266433			43567	pseudogene	pseudogene							Standard	NR_033892		Approved		uc002gzg.3		OTTHUMG00000179156		17.37:g.25749685G>A		Somatic	0	113	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000586223.1	37	NULL		17																																																																																			-	-		0.552	TBC1D3P5-003	KNOWN	non_canonical_TEC|basic	processed_transcript	TBC1D3P5	pseudogene	OTTHUMT00000451073.1	G	NR_033892	-		25749685	+1	no_errors	ENST00000581469	ensembl	human	known	74_37	rna	SNP	0.985	A
AFMID	125061	genome.wustl.edu	37	17	76201264	76201264	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:76201264C>T	ENST00000327898.5	+	7	567	c.558C>T	c.(556-558)aaC>aaT	p.N186N	AFMID_ENST00000409257.5_Silent_p.N186N|AFMID_ENST00000589664.1_Intron|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron					arylformamidase											autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TCACGCCCAACCTCAGAGGTT	0.617																																																	0								ENSG00000183077						29.0	31.0	30.0					17																	76201264		2203	4300	6503	AFMID	SO:0001819	synonymous_variant	0			-	HGNC	BX648442	CCDS32750.2, CCDS45801.1	17q25.3	2005-11-09			ENSG00000183077	ENSG00000183077	3.5.1.9		20910	protein-coding gene	gene with protein product							Standard	NR_027083		Approved	DKFZp686F03259, KF	uc002juz.3	Q63HM1	OTTHUMG00000153957	ENST00000327898.5:c.558C>T	17.37:g.76201264C>T		Somatic	0	102	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AB_hydrolase_3	p.N186	ENST00000327898.5	37	c.558	CCDS45801.1	17																																																																																			-	pfam_AB_hydrolase_3		0.617	AFMID-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFMID	protein_coding	OTTHUMT00000333203.1	C	XM_058889	-		76201264	+1	no_errors	ENST00000327898	ensembl	human	known	74_37	silent	SNP	0.995	T
COL6A3	1293	genome.wustl.edu	37	2	238280874	238280874	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:238280874C>T	ENST00000295550.4	-	9	4238	c.3786G>A	c.(3784-3786)ctG>ctA	p.L1262L	COL6A3_ENST00000346358.4_Silent_p.L1062L|COL6A3_ENST00000353578.4_Silent_p.L1056L|COL6A3_ENST00000392004.3_Silent_p.L1056L|COL6A3_ENST00000409809.1_Silent_p.L1056L|COL6A3_ENST00000472056.1_Silent_p.L655L|COL6A3_ENST00000347401.3_Silent_p.L1061L|COL6A3_ENST00000392003.2_Silent_p.L855L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1262	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCCCACGTCCAGGTAGTCAA	0.582																																																	0								ENSG00000163359						51.0	47.0	48.0					2																	238280874		2203	4300	6503	COL6A3	SO:0001819	synonymous_variant	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3786G>A	2.37:g.238280874C>T		Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.L1262	ENST00000295550.4	37	c.3786	CCDS33412.1	2																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.582	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369	-		238280874	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	silent	SNP	1.000	T
TTC25	83538	genome.wustl.edu	37	17	40095403	40095403	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:40095403G>A	ENST00000591658.1	+	0	1104							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				CCACAGAAAGGACCTGGAGAT	0.582																																																	0								ENSG00000204815						40.0	44.0	43.0					17																	40095403		2076	4212	6288	TTC25			0			-	HGNC	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40095403G>A		Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	6	40.00	Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000591658.1	37	NULL		17																																																																																			-	-		0.582	TTC25-001	KNOWN	basic	processed_transcript	TTC25	processed_transcript	OTTHUMT00000449237.1	G	NM_031421	-		40095403	+1	no_errors	ENST00000591658	ensembl	human	known	74_37	rna	SNP	1.000	A
SETDB1	9869	genome.wustl.edu	37	1	150923309	150923309	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:150923309C>T	ENST00000271640.5	+	13	2146	c.1956C>T	c.(1954-1956)ttC>ttT	p.F652F	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Silent_p.F652F	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	652	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTGTGACTTCCTCTTCCTGG	0.438																																																	0								ENSG00000143379						156.0	140.0	146.0					1																	150923309		2203	4300	6503	SETDB1	SO:0001819	synonymous_variant	0			-	HGNC	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.1956C>T	1.37:g.150923309C>T		Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom	p.F652	ENST00000271640.5	37	c.1956	CCDS44217.1	1																																																																																			-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd		0.438	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	protein_coding	OTTHUMT00000084717.2	C		-		150923309	+1	no_errors	ENST00000271640	ensembl	human	known	74_37	silent	SNP	0.998	T
LMF2	91289	genome.wustl.edu	37	22	50941899	50941899	+	Missense_Mutation	SNP	G	G	A	rs142643928		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50941899G>A	ENST00000474879.2	-	14	2060	c.2045C>T	c.(2044-2046)tCc>tTc	p.S682F	LMF2_ENST00000216080.5_Missense_Mutation_p.S657F|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.S569F	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	682						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCTCCGGAGTCTTTCTG	0.642																																																	0								ENSG00000100258						19.0	21.0	20.0					22																	50941899		2199	4291	6490	LMF2	SO:0001583	missense	0			-	HGNC	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2045C>T	22.37:g.50941899G>A	ENSP00000424381:p.Ser682Phe	Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LMF	p.S682F	ENST00000474879.2	37	c.2045	CCDS14093.2	22	.	.	.	.	.	.	.	.	.	.	G	13.45	2.241472	0.39598	.	.	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.33438	1.41;1.86;1.85	5.12	-5.07	0.02938	.	2.678450	0.01258	N	0.009081	T	0.31827	0.0809	L	0.60455	1.87	0.09310	N	1	P;P	0.44946	0.761;0.846	B;P	0.44946	0.275;0.465	T	0.49735	-0.8908	10	0.66056	D	0.02	1.118	4.5098	0.11906	0.0895:0.4765:0.1924:0.2415	.	682;657	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	F	569;682;657	ENSP00000370173:S569F;ENSP00000424381:S682F;ENSP00000216080:S657F	ENSP00000216080:S657F	S	-	2	0	LMF2	49288765	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.105000	0.10907	-0.293000	0.08986	-0.367000	0.07326	TCC	-	NULL		0.642	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LMF2	protein_coding	OTTHUMT00000316833.2	G	NM_033200	-		50941899	-1	no_errors	ENST00000474879	ensembl	human	known	74_37	missense	SNP	0.000	A
KCNC2	3747	genome.wustl.edu	37	12	75436224	75436224	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:75436224G>A	ENST00000549446.1	-	0	3258				KCNC2_ENST00000298972.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000548513.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000550049.1_RNA	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	AATCAATCAAGAAATTAAACT	0.333																																																	0								ENSG00000257434						42.0	36.0	37.0					12																	75436224		692	1590	2282	RP11-81K13.1	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene	AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*661C>T	12.37:g.75436224G>A		Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	13	38.10	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			-	-		0.333	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	protein_coding	OTTHUMT00000405581.2	G	NM_153748	-		75436224	+1	no_errors	ENST00000547040	ensembl	human	known	74_37	rna	SNP	0.640	A
GPR152	390212	genome.wustl.edu	37	11	67219868	67219868	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67219868G>T	ENST00000312457.2	-	1	332	c.328C>A	c.(328-330)Cta>Ata	p.L110I	CABP4_ENST00000438189.2_5'Flank|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACGCCCCATAGGAAGTAGTAG	0.657																																					Pancreas(102;800 1581 2723 7382 33622)												0								ENSG00000175514						21.0	22.0	22.0					11																	67219868		2197	4291	6488	GPR152	SO:0001583	missense	0			-	HGNC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.328C>A	11.37:g.67219868G>T	ENSP00000310255:p.Leu110Ile	Somatic	0	119	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	78	14.29	Q0VD88|Q86SM0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L110I	ENST00000312457.2	37	c.328	CCDS8165.1	11	.	.	.	.	.	.	.	.	.	.	G	15.67	2.903280	0.52333	.	.	ENSG00000175514	ENST00000312457	T	0.40756	1.02	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31709	N	0.007191	T	0.38772	0.1053	N	0.12853	0.265	0.35203	D	0.774431	D	0.61080	0.989	D	0.65010	0.931	T	0.41610	-0.9499	10	0.23302	T	0.38	.	9.0748	0.36515	0.0976:0.0:0.9024:0.0	.	110	Q8TDT2	GP152_HUMAN	I	110	ENSP00000310255:L110I	ENSP00000310255:L110I	L	-	1	2	GPR152	66976444	0.838000	0.29461	1.000000	0.80357	0.972000	0.66771	1.154000	0.31688	2.542000	0.85734	0.561000	0.74099	CTA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.657	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	protein_coding	OTTHUMT00000397623.1	G		-		67219868	-1	no_errors	ENST00000312457	ensembl	human	known	74_37	missense	SNP	1.000	T
GRIN3A	116443	genome.wustl.edu	37	9	104433107	104433107	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:104433107C>T	ENST00000361820.3	-	3	2187	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	529					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	CATCTACCTCCCTTGTGAAGA	0.498																																																	0								ENSG00000198785						173.0	152.0	159.0					9																	104433107		2203	4300	6503	GRIN3A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.1587G>A	9.37:g.104433107C>T		Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.R529	ENST00000361820.3	37	c.1587	CCDS6758.1	9																																																																																			-	NULL		0.498	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	protein_coding	OTTHUMT00000053453.1	C		-		104433107	-1	no_errors	ENST00000361820	ensembl	human	known	74_37	silent	SNP	0.660	T
NPAS3	64067	genome.wustl.edu	37	14	34263252	34263252	+	Splice_Site	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:34263252T>C	ENST00000356141.4	+	10	1301		c.e10+2		NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000551492.1_Splice_Site|NPAS3_ENST00000346562.2_Splice_Site			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTTCTTAGGTATATTTTCTA	0.333																																																	0								ENSG00000151322						90.0	80.0	83.0					14																	34263252		2203	4300	6503	NPAS3	SO:0001630	splice_region_variant	0			-	HGNC	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.1301+2T>C	14.37:g.34263252T>C		Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e10+2	ENST00000356141.4	37	c.1301+2	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	T	19.99	3.929190	0.73327	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	.	.	.	5.94	5.94	0.96194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3939	0.83550	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	NPAS3	33333003	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.040000	0.89188	2.276000	0.75962	0.455000	0.32223	.	-	-		0.333	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	protein_coding	OTTHUMT00000276645.1	T		-	Intron	34263252	+1	no_errors	ENST00000356141	ensembl	human	known	74_37	splice_site	SNP	1.000	C
GPR123	84435	genome.wustl.edu	37	10	134886644	134886644	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:134886644delC	ENST00000607359.1	+	3	678	c.678delC	c.(676-678)agcfs	p.S226fs				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	276					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		GGTCCACGAGCCCCCGGGGCC	0.716																																																	0								ENSG00000197177						9.0	11.0	10.0					10																	134886644		1537	3555	5092	GPR123	SO:0001589	frameshift_variant	0				HGNC	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000607359.1:c.678delC	10.37:g.134886644delC	ENSP00000475778:p.Ser226fs	Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	p.R228fs	ENST00000607359.1	37	c.678		10																																																																																			-	NULL		0.716	GPR123-004	PUTATIVE	basic|appris_candidate_longest	protein_coding	GPR123	protein_coding	OTTHUMT00000316904.2	C				134886644	+1	no_errors	ENST00000607359	ensembl	human	putative	74_37	frame_shift_del	DEL	0.000	-
CIDEB	27141	genome.wustl.edu	37	14	24775214	24775214	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24775214A>C	ENST00000336557.5	-	7	1768	c.466T>G	c.(466-468)Ttc>Gtc	p.F156V	NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000554411.1_Missense_Mutation_p.F156V|CIDEB_ENST00000258807.5_Missense_Mutation_p.F156V|LTB4R2_ENST00000528054.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	156					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		AGCCCGTAGAATGTGGCTTTG	0.502																																																	0								ENSG00000136305						154.0	142.0	146.0					14																	24775214		2203	4300	6503	CIDEB	SO:0001583	missense	0			-	HGNC	AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.466T>G	14.37:g.24775214A>C	ENSP00000337731:p.Phe156Val	Somatic	0	112	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	52	18.46	D3DS73|Q546V8|Q9NNW9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom	p.F156V	ENST00000336557.5	37	c.466	CCDS32056.1	14	.	.	.	.	.	.	.	.	.	.	A	25.7	4.663555	0.88251	.	.	ENSG00000136305	ENST00000554411;ENST00000336557;ENST00000258807;ENST00000541830	T;T;T	0.81330	-1.48;-1.48;-1.48	5.08	5.08	0.68730	.	0.050751	0.85682	D	0.000000	D	0.87525	0.6199	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	D	0.88906	0.3356	10	0.72032	D	0.01	-28.8868	13.9714	0.64242	1.0:0.0:0.0:0.0	.	156	Q9UHD4	CIDEB_HUMAN	V	156	ENSP00000451089:F156V;ENSP00000337731:F156V;ENSP00000258807:F156V	ENSP00000258807:F156V	F	-	1	0	CIDEB	23845054	0.999000	0.42202	0.991000	0.47740	0.989000	0.77384	4.260000	0.58835	2.144000	0.66660	0.460000	0.39030	TTC	-	NULL		0.502	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	protein_coding	OTTHUMT00000414120.1	A		-		24775214	-1	no_errors	ENST00000258807	ensembl	human	known	74_37	missense	SNP	1.000	C
TCHHL1	126637	genome.wustl.edu	37	1	152057940	152057940	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152057940C>T	ENST00000368806.1	-	3	2282	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	740							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTTACAGGTTCCTTTGTTTCA	0.448																																																	0								ENSG00000182898						149.0	151.0	150.0					1																	152057940		2203	4300	6503	TCHHL1	SO:0001583	missense	0			-	HGNC		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2218G>A	1.37:g.152057940C>T	ENSP00000357796:p.Glu740Lys	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	B2RPK8|Q5VTJ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub	p.E740K	ENST00000368806.1	37	c.2218	CCDS30857.1	1	.	.	.	.	.	.	.	.	.	.	.	11.20	1.567732	0.28003	.	.	ENSG00000182898	ENST00000368806	T	0.23348	1.91	4.97	2.72	0.32119	.	0.205133	0.24274	N	0.039980	T	0.08223	0.0205	L	0.44542	1.39	0.09310	N	1	P	0.41673	0.759	B	0.43052	0.406	T	0.16928	-1.0386	10	0.10902	T	0.67	-5.9616	7.7511	0.28898	0.0:0.7705:0.0:0.2295	.	740	Q5QJ38	TCHL1_HUMAN	K	740	ENSP00000357796:E740K	ENSP00000357796:E740K	E	-	1	0	TCHHL1	150324564	0.008000	0.16893	0.012000	0.15200	0.002000	0.02628	-0.008000	0.12788	1.099000	0.41499	0.655000	0.94253	GAA	-	NULL		0.448	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	protein_coding	OTTHUMT00000036638.2	C	XM_060104	-		152057940	-1	no_errors	ENST00000368806	ensembl	human	known	74_37	missense	SNP	0.005	T
ZNF618	114991	genome.wustl.edu	37	9	116812049	116812049	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:116812049G>A	ENST00000374126.5	+	15	2566	c.2467G>A	c.(2467-2469)Gag>Aag	p.E823K	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000288466.7_Missense_Mutation_p.E730K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	823					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CTACCAGCACGAGGAGATCAT	0.642																																																	0								ENSG00000157657						52.0	59.0	57.0					9																	116812049		2046	4193	6239	ZNF618	SO:0001583	missense	0			-	HGNC	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2467G>A	9.37:g.116812049G>A	ENSP00000363241:p.Glu823Lys	Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E823K	ENST00000374126.5	37	c.2467		9	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715814	0.89112	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	T;T	0.21031	2.03;2.03	5.63	5.63	0.86233	Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.44393	0.1291	.	.	.	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.80764	0.955;0.986;0.994	T	0.04115	-1.0976	9	0.22706	T	0.39	-33.515	19.0349	0.92972	0.0:0.0:1.0:0.0	.	790;823;730	B9EG82;Q5T7W0;Q5T7W0-2	.;ZN618_HUMAN;.	K	823;730	ENSP00000363241:E823K;ENSP00000288466:E730K	ENSP00000288466:E730K	E	+	1	0	ZNF618	115851870	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.100000	0.94213	2.815000	0.96918	0.561000	0.74099	GAG	-	superfamily_RNaseH-like_dom		0.642	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF618	protein_coding	OTTHUMT00000053749.1	G	XM_054983	-		116812049	+1	no_errors	ENST00000374126	ensembl	human	known	74_37	missense	SNP	1.000	A
GAPVD1	26130	genome.wustl.edu	37	9	128099320	128099320	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:128099320C>T	ENST00000495955.1	+	16	2742	c.2452C>T	c.(2452-2454)Cct>Tct	p.P818S	GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000470056.1_Missense_Mutation_p.P818S|GAPVD1_ENST00000394104.2_Missense_Mutation_p.P818S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P845S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P797S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P818S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P797S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	818					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GACCTCTCCTCCTTCTCAGTC	0.483																																																	0								ENSG00000165219						97.0	94.0	95.0					9																	128099320		2203	4300	6503	GAPVD1	SO:0001583	missense	0			-	HGNC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2452C>T	9.37:g.128099320C>T	ENSP00000419063:p.Pro818Ser	Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP	p.P845S	ENST00000495955.1	37	c.2533		9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.664862|4.664862	0.88251|0.88251	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000470056;ENST00000394105;ENST00000394104;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123|ENST00000436712	.|.	.|.	.|.	6.08|6.08	6.08|6.08	0.98989|0.98989	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56819|0.56819	0.2011|0.2011	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	B;B;B;B;D|.	0.71674|.	0.259;0.376;0.376;0.376;0.998|.	B;B;B;B;D|.	0.80764|.	0.048;0.104;0.104;0.104;0.994|.	T|T	0.47971|0.47971	-0.9075|-0.9075	9|5	0.10377|.	T|.	0.69|.	.|.	19.6516|19.6516	0.95815|0.95815	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	818;818;797;818;845|.	Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6|.	GAPD1_HUMAN;.;.;.;.|.	S|F	818;845;818;797;818;818;818;797|654	.|.	ENSP00000297933:P818S|.	P|S	+|+	1|2	0|0	GAPVD1|GAPVD1	127139141|127139141	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.089000|6.089000	0.71384|0.71384	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CCT|TCC	-	NULL		0.483	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	C		-		128099320	+1	no_errors	ENST00000394105	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNRF3	84133	genome.wustl.edu	37	22	29446776	29446776	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:29446776C>T	ENST00000544604.2	+	8	2782	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	ZNRF3_ENST00000406323.3_Silent_p.G769G|ZNRF3_ENST00000402174.1_Silent_p.G769G|ZNRF3_ENST00000332811.4_Silent_p.G769G	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	869					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CCCACAGGGGCCTGGGAGCAA	0.721																																																	0								ENSG00000183579						9.0	11.0	11.0					22																	29446776		1874	4086	5960	ZNRF3	SO:0001819	synonymous_variant	0			-	HGNC	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.2607C>T	22.37:g.29446776C>T		Somatic	0	99	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G869	ENST00000544604.2	37	c.2607	CCDS56225.1	22																																																																																			-	NULL		0.721	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNRF3	protein_coding	OTTHUMT00000320943.2	C	XM_290972	-		29446776	+1	no_errors	ENST00000544604	ensembl	human	known	74_37	silent	SNP	0.005	T
SORCS1	114815	genome.wustl.edu	37	10	108448081	108448081	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:108448081C>T	ENST00000263054.6	-	10	1436	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	SORCS1_ENST00000369698.1_Missense_Mutation_p.G12R|SORCS1_ENST00000344440.6_Missense_Mutation_p.G477R	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	477					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		AAGAACATTCCCTTTATCCCT	0.398																																																	0								ENSG00000108018						86.0	78.0	81.0					10																	108448081		2203	4300	6503	SORCS1	SO:0001583	missense	0			-	HGNC	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.1429G>A	10.37:g.108448081C>T	ENSP00000263054:p.Gly477Arg	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G477R	ENST00000263054.6	37	c.1429	CCDS7559.1	10	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938431	0.92526	.	.	ENSG00000108018	ENST00000369698;ENST00000263054;ENST00000344440	T;T;T	0.36157	1.27;1.27;1.27	6.17	6.17	0.99709	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.71913	0.3396	M	0.93016	3.37	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.76575	-0.2909	9	.	.	.	-17.1552	20.8794	0.99867	0.0:1.0:0.0:0.0	.	477;477;477;477;477	A8K182;Q8WY21-4;Q8WY21-3;Q8WY21;Q8WY21-2	.;.;.;SORC1_HUMAN;.	R	12;477;477	ENSP00000358712:G12R;ENSP00000263054:G477R;ENSP00000345964:G477R	.	G	-	1	0	SORCS1	108438071	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.400000	0.79949	2.941000	0.99782	0.655000	0.94253	GGA	-	smart_VPS10		0.398	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS1	protein_coding	OTTHUMT00000050232.4	C	NM_052918	-		108448081	-1	no_errors	ENST00000344440	ensembl	human	known	74_37	missense	SNP	1.000	T
LRRTM4	80059	genome.wustl.edu	37	2	77745775	77745775	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:77745775C>T	ENST00000409093.1	-	3	1556	c.1220G>A	c.(1219-1221)gGg>gAg	p.G407E	LRRTM4_ENST00000409911.1_Missense_Mutation_p.G408E|LRRTM4_ENST00000409088.3_Missense_Mutation_p.G407E|LRRTM4_ENST00000409282.1_Missense_Mutation_p.G408E|LRRTM4_ENST00000409884.1_Missense_Mutation_p.G407E			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	407					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCTGAAACCCTGGGGAAGG	0.498																																																	0								ENSG00000176204						113.0	111.0	112.0					2																	77745775		1888	4111	5999	LRRTM4	SO:0001583	missense	0			-	HGNC	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1220G>A	2.37:g.77745775C>T	ENSP00000386357:p.Gly407Glu	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.G408E	ENST00000409093.1	37	c.1223	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	C	10.30	1.313186	0.23908	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87	5.46	4.53	0.55603	.	0.414454	0.28555	N	0.014927	T	0.49253	0.1546	N	0.14661	0.345	0.31749	N	0.634796	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.47573	-0.9107	10	0.02654	T	1	.	7.4143	0.27036	0.0:0.609:0.304:0.087	.	408;407;407	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	E	408;407;407;407;408	ENSP00000387228:G408E;ENSP00000387297:G407E;ENSP00000386357:G407E;ENSP00000386236:G407E;ENSP00000386286:G408E	ENSP00000386236:G407E	G	-	2	0	LRRTM4	77599283	0.170000	0.23016	1.000000	0.80357	0.997000	0.91878	0.874000	0.28065	2.552000	0.86080	0.655000	0.94253	GGG	-	NULL		0.498	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	protein_coding	OTTHUMT00000328225.1	C	NM_024993	-		77745775	-1	no_errors	ENST00000409911	ensembl	human	known	74_37	missense	SNP	1.000	T
STAM	8027	genome.wustl.edu	37	10	17747638	17747638	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:17747638C>T	ENST00000377524.3	+	12	1322	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	STAM_ENST00000540523.1_Silent_p.S258S	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	369					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)	p.S369>?(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						AGGCCCTTTCCTTATATACCA	0.353																																																	1	Complex(1)	skin(1)						ENSG00000136738						125.0	121.0	122.0					10																	17747638		2203	4300	6503	STAM	SO:0001819	synonymous_variant	0			-	HGNC	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1107C>T	10.37:g.17747638C>T		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	6	50.00	B0YJ99|D3DRU5|Q8N6D9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox	p.S369	ENST00000377524.3	37	c.1107	CCDS7122.1	10																																																																																			-	NULL		0.353	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAM	protein_coding	OTTHUMT00000047039.1	C	NM_003473	-		17747638	+1	no_errors	ENST00000377524	ensembl	human	known	74_37	silent	SNP	0.801	T
NDST3	9348	genome.wustl.edu	37	4	118975802	118975802	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:118975802C>T	ENST00000296499.5	+	2	1140	c.737C>T	c.(736-738)cCt>cTt	p.P246L	NDST3_ENST00000433996.2_Missense_Mutation_p.P246L	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	246	Heparan sulfate N-deacetylase 3.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AACCTTTCTCCTTCCATCTCT	0.393																																																	0								ENSG00000164100						129.0	127.0	127.0					4																	118975802		2203	4299	6502	NDST3	SO:0001583	missense	0			-	HGNC	AF074924	CCDS3708.1	4q26	2008-08-04			ENSG00000164100	ENSG00000164100		"""Sulfotransferases, membrane-bound"""	7682	protein-coding gene	gene with protein product		603950				9915799	Standard	NM_004784		Approved	HSST3	uc003ibx.3	O95803	OTTHUMG00000132959	ENST00000296499.5:c.737C>T	4.37:g.118975802C>T	ENSP00000296499:p.Pro246Leu	Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	B4DI67|Q4W5C1|Q4W5D0|Q6UWC5|Q9UP21	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.P246L	ENST00000296499.5	37	c.737	CCDS3708.1	4	.	.	.	.	.	.	.	.	.	.	C	9.622	1.134053	0.21123	.	.	ENSG00000164100	ENST00000296499;ENST00000433996	T;T	0.42900	1.3;0.96	5.07	5.07	0.68467	.	0.179413	0.51477	D	0.000097	T	0.55130	0.1901	L	0.38531	1.155	0.54753	D	0.999989	P;B;D	0.89917	0.611;0.005;1.0	B;B;D	0.91635	0.196;0.013;0.999	T	0.48647	-0.9017	10	0.26408	T	0.33	.	18.4535	0.90712	0.0:1.0:0.0:0.0	.	246;246;246	B4DI67;O95803;O95803-2	.;NDST3_HUMAN;.	L	246	ENSP00000296499:P246L;ENSP00000396625:P246L	ENSP00000296499:P246L	P	+	2	0	NDST3	119195250	0.983000	0.35010	1.000000	0.80357	0.478000	0.33099	1.786000	0.38694	2.346000	0.79739	0.655000	0.94253	CCT	-	pfam_Heparan_SO4_deacetylase		0.393	NDST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDST3	protein_coding	OTTHUMT00000256517.4	C	NM_004784	-		118975802	+1	no_errors	ENST00000296499	ensembl	human	known	74_37	missense	SNP	0.980	T
GPR115	221393	genome.wustl.edu	37	6	47682551	47682551	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:47682551G>A	ENST00000283303.2	+	6	1828	c.1570G>A	c.(1570-1572)Ggg>Agg	p.G524R	RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000371220.1_Missense_Mutation_p.G581R|GPR115_ENST00000327753.3_Missense_Mutation_p.G524R	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	524					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CATTGGCTATGGGTGCCCATT	0.453																																					GBM(22;431 510 9010 26644 32828)												0								ENSG00000153294						185.0	175.0	178.0					6																	47682551		2203	4300	6503	GPR115	SO:0001583	missense	0			-	HGNC	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1570G>A	6.37:g.47682551G>A	ENSP00000283303:p.Gly524Arg	Somatic	0	92	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.G581R	ENST00000283303.2	37	c.1741	CCDS4922.2	6	.	.	.	.	.	.	.	.	.	.	G	25.1	4.607538	0.87157	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.65178	-0.14;-0.14;-0.14	5.24	5.24	0.73138	GPCR, family 2-like (1);	0.077233	0.56097	D	0.000032	D	0.82912	0.5140	M	0.93150	3.385	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.87205	0.2243	10	0.87932	D	0	-10.4959	18.158	0.89700	0.0:0.0:1.0:0.0	.	524	Q8IZF3	GP115_HUMAN	R	581;524;524	ENSP00000360264:G581R;ENSP00000328319:G524R;ENSP00000283303:G524R	ENSP00000283303:G524R	G	+	1	0	GPR115	47790510	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.833000	0.86765	2.593000	0.87608	0.655000	0.94253	GGG	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.453	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	protein_coding	OTTHUMT00000040819.2	G	NM_153838	-		47682551	+1	no_errors	ENST00000371220	ensembl	human	known	74_37	missense	SNP	1.000	A
DNM1P46	196968	genome.wustl.edu	37	15	100332542	100332542	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:100332542C>T	ENST00000341853.1	-	0	1649				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGCTGCAGGGCCGTCGGAGGG	0.592																																																	0								ENSG00000182397						60.0	65.0	63.0					15																	100332542		876	1991	2867	DNM1P46			0			-	HGNC	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100332542C>T		Somatic	0	173	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	87	20.54	Q3ZCN3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			-	-		0.592	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	pseudogene	OTTHUMT00000313543.1	C	NR_003260	-		100332542	-1	no_errors	ENST00000341853	ensembl	human	known	74_37	rna	SNP	0.056	T
TTN	7273	genome.wustl.edu	37	2	179418830	179418830	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:179418830G>A	ENST00000591111.1	-	283	84309	c.84085C>T	c.(84085-84087)Ctt>Ttt	p.L28029F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27102F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20605F|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L29670F|TTN_ENST00000359218.5_Missense_Mutation_p.L20730F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20797F|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28029	Fibronectin type-III 104. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.L20605I(1)|p.L27100I(1)|p.L20797I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTTTTTCAAGGAAATAGCCA	0.418																																																	3	Substitution - Missense(3)	large_intestine(3)						ENSG00000155657						197.0	192.0	193.0					2																	179418830		1907	4137	6044	TTN	SO:0001583	missense	0			-	HGNC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.84085C>T	2.37:g.179418830G>A	ENSP00000465570:p.Leu28029Phe	Somatic	0	20	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.L27102F	ENST00000591111.1	37	c.81304		2	.	.	.	.	.	.	.	.	.	.	G	18.56	3.650930	0.67472	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60920	0.15;0.15;0.15;0.15	5.61	5.61	0.85477	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.84306	0.5443	H	0.95079	3.62	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.88288	0.2941	9	0.87932	D	0	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	20605;20730;20797;28029	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	27102;20605;20797;20730;20602	ENSP00000343764:L27102F;ENSP00000434586:L20605F;ENSP00000340554:L20797F;ENSP00000352154:L20730F	ENSP00000340554:L20797F	L	-	1	0	TTN	179127076	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.647000	0.67923	2.793000	0.96121	0.655000	0.94253	CTT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.418	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179418830	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A
FREM1	158326	genome.wustl.edu	37	9	14759900	14759900	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:14759900C>T	ENST00000380880.3	-	28	5988		c.e28-1		FREM1_ENST00000486223.1_Splice_Site|FREM1_ENST00000380881.4_Splice_Site|FREM1_ENST00000380894.1_Splice_Site|FREM1_ENST00000422223.2_Splice_Site			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1						cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGTTCCAAACTGTGTGTGAA	0.413																																																	0								ENSG00000164946						114.0	105.0	108.0					9																	14759900		1873	4104	5977	FREM1	SO:0001630	splice_region_variant	0			-	HGNC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.5205-1G>A	9.37:g.14759900C>T		Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e27-1	ENST00000380880.3	37	c.5208-1	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085308	0.76642	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380894;ENST00000380880;ENST00000380892	.	.	.	5.86	5.86	0.93980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FREM1	14749900	1.000000	0.71417	0.895000	0.35142	0.917000	0.54804	5.179000	0.65043	2.777000	0.95525	0.655000	0.94253	.	-	-		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	protein_coding	OTTHUMT00000339474.2	C	NM_144966	-	Intron	14759900	-1	no_errors	ENST00000380881	ensembl	human	known	74_37	splice_site	SNP	0.997	T
GRIPAP1	56850	genome.wustl.edu	37	X	48847539	48847539	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:48847539G>A	ENST00000376441.1	-	7	492				GRIPAP1_ENST00000376425.3_Intron|GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376423.4_Intron|GRIPAP1_ENST00000473581.1_5'UTR	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						AGTAGAACAGGGATATATGAT	0.597																																																	0								ENSG00000068400						17.0	14.0	15.0					X																	48847539		2194	4261	6455	GRIPAP1	SO:0001627	intron_variant	0			-	HGNC	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.458-17C>T	X.37:g.48847539G>A		Somatic	0	15	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000376441.1	37	NULL	CCDS35248.1	X																																																																																			-	-		0.597	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	protein_coding	OTTHUMT00000080970.2	G	NM_207672	-		48847539	-1	no_errors	ENST00000473581	ensembl	human	known	74_37	rna	SNP	0.000	A
AOC4P	90586	genome.wustl.edu	37	17	41020250	41020250	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:41020250G>A	ENST00000585538.1	+	0	1089					NR_002773.1				amine oxidase, copper containing 4, pseudogene																		CCATCCCCAAGGCCCCCGCTT	0.612																																																	0								ENSG00000260105																																			AOC4P			0			-	HGNC			17q21.31	2013-06-19			ENSG00000260105	ENSG00000260105			48869	pseudogene	pseudogene						20013028	Standard	NR_002773		Approved				OTTHUMG00000176596		17.37:g.41020250G>A		Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000585538.1	37	NULL		17																																																																																			-	-		0.612	AOC4P-006	KNOWN	basic	processed_transcript	AOC4P	pseudogene	OTTHUMT00000452449.1	G		-		41020250	+1	no_errors	ENST00000585538	ensembl	human	known	74_37	rna	SNP	0.987	A
LOC146880	146880	genome.wustl.edu	37	17	62750560	62750560	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:62750560G>A	ENST00000400873.3	-	0	2053					NR_026899.1																						CGCTGACAAGGAATGGGACTA	0.403																																																	0								ENSG00000215769																																			hsa-mir-6080			0			-	miRBase																													17.37:g.62750560G>A		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	43	18.87		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000400873.3	37	NULL		17																																																																																			-	-		0.403	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	LOC146880	processed_transcript		G		-		62750560	-1	no_errors	ENST00000400873	ensembl	human	known	74_37	rna	SNP	0.922	A
SIPA1L1	26037	genome.wustl.edu	37	14	72054645	72054645	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:72054645C>T	ENST00000555818.1	+	2	404	c.56C>T	c.(55-57)tCt>tTt	p.S19F	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S19F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S19F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	19					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GACAGGGCCTCTGTTGTTGGC	0.507																																																	0								ENSG00000197555						97.0	95.0	96.0					14																	72054645		2203	4300	6503	SIPA1L1	SO:0001583	missense	0			-	HGNC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.56C>T	14.37:g.72054645C>T	ENSP00000450832:p.Ser19Phe	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.S19F	ENST00000555818.1	37	c.56	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	15.75	2.925653	0.52759	.	.	ENSG00000197555	ENST00000557151;ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78481	-1.18;-1.18;-1.18	5.42	5.42	0.78866	.	0.225662	0.39274	N	0.001401	T	0.75236	0.3822	L	0.38175	1.15	0.80722	D	1	D;P;D	0.55385	0.971;0.624;0.971	P;B;P	0.49012	0.598;0.377;0.598	T	0.78272	-0.2268	10	0.87932	D	0	-17.4297	13.5172	0.61547	0.1559:0.844:0.0:0.0	.	19;19;19	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	F	19	ENSP00000370630:S19F;ENSP00000450832:S19F;ENSP00000351352:S19F	ENSP00000351352:S19F	S	+	2	0	SIPA1L1	71124398	1.000000	0.71417	0.959000	0.39883	0.987000	0.75469	5.377000	0.66184	2.687000	0.91594	0.655000	0.94253	TCT	-	NULL		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	protein_coding	OTTHUMT00000412806.1	C	NM_015556	-		72054645	+1	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	SNP	0.998	T
EYS	346007	genome.wustl.edu	37	6	65301274	65301274	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:65301274G>A	ENST00000370621.3	-	26	5012	c.4486C>T	c.(4486-4488)Cct>Tct	p.P1496S	EYS_ENST00000503581.1_Missense_Mutation_p.P1496S|EYS_ENST00000370616.2_Missense_Mutation_p.P1496S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1496					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACCTTAGCAGGAAAAATGGGA	0.418																																																	0								ENSG00000188107						35.0	32.0	33.0					6																	65301274		692	1590	2282	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.4486C>T	6.37:g.65301274G>A	ENSP00000359655:p.Pro1496Ser	Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.00	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.P1496S	ENST00000370621.3	37	c.4486		6	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331666	0.60853	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.84589	-1.87;-1.83;-1.83	5.84	4.96	0.65561	.	.	.	.	.	T	0.78457	0.4286	N	0.08118	0	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63877	0.919;0.831	D	0.85171	0.0998	9	0.62326	D	0.03	.	14.8349	0.70175	0.0:0.1436:0.8564:0.0	.	1496;1496	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	S	1496	ENSP00000424243:P1496S;ENSP00000359655:P1496S;ENSP00000359650:P1496S	ENSP00000359650:P1496S	P	-	1	0	EYS	65357995	1.000000	0.71417	0.984000	0.44739	0.991000	0.79684	2.044000	0.41241	1.448000	0.47680	0.591000	0.81541	CCT	-	NULL		0.418	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	G	XM_294050	-		65301274	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.994	A
GUSB	2990	genome.wustl.edu	37	7	65439344	65439344	+	Silent	SNP	G	G	A	rs139776224	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:65439344G>A	ENST00000304895.4	-	8	1459	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Silent_p.V297V|GUSB_ENST00000345660.6_Silent_p.V392V	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	443					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						ACCACATCACGACCGCGGGGT	0.587													G|||	6	0.00119808	0.0	0.0014	5008	,	,		18850	0.0		0.0	False		,,,				2504	0.0051																0								ENSG00000169919	G		3,4403	6.2+/-15.9	0,3,2200	138.0	125.0	129.0		1329	-9.6	0.0	7	dbSNP_134	129	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GUSB	NM_000181.3		0,4,6499	AA,AG,GG		0.0116,0.0681,0.0308		443/652	65439344	4,13002	2203	4300	6503	GUSB	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1329C>T	7.37:g.65439344G>A		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	B4E1F6|E9PCV0|Q549U0|Q96CL9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.V443	ENST00000304895.4	37	c.1329	CCDS5530.1	7																																																																																			-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_2		0.587	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	protein_coding	OTTHUMT00000251637.3	G	NM_000181	rs139776224		65439344	-1	no_errors	ENST00000304895	ensembl	human	known	74_37	silent	SNP	0.231	A
TAOK1	57551	genome.wustl.edu	37	17	27818848	27818848	+	Missense_Mutation	SNP	C	C	T	rs369963000		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:27818848C>T	ENST00000261716.3	+	10	1315	c.796C>T	c.(796-798)Cct>Tct	p.P266S	TAOK1_ENST00000536202.1_Missense_Mutation_p.P266S	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	266	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|execution phase of apoptosis (GO:0097194)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of cytoskeleton organization (GO:0051493)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CCAGAAAATCCCTCAAGATCG	0.333																																																	0								ENSG00000160551						113.0	111.0	112.0					17																	27818848		2203	4300	6503	TAOK1	SO:0001583	missense	0			-	HGNC	AB037782	CCDS32601.1, CCDS56024.1	17q11.2	2014-01-28				ENSG00000160551			29259	protein-coding gene	gene with protein product		610266				10718198, 14517247	Standard	NM_020791		Approved	KIAA1361, MARKK, PSK2, MAP3K16, FLJ14314, TAO1	uc002hdz.2	Q7L7X3		ENST00000261716.3:c.796C>T	17.37:g.27818848C>T	ENSP00000261716:p.Pro266Ser	Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	A2RUT8|B7ZLV6|Q96L75|Q9H2K7|Q9H7S5|Q9P2I6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.P266S	ENST00000261716.3	37	c.796	CCDS32601.1	17	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299159	0.60195	.	.	ENSG00000160551	ENST00000261716;ENST00000536202	D;T	0.85258	-1.96;1.23	5.19	5.19	0.71726	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050225	0.85682	D	0.000000	D	0.89287	0.6672	M	0.78801	2.425	0.80722	D	1	P;P;B	0.45594	0.862;0.673;0.322	P;P;B	0.48114	0.567;0.461;0.215	D	0.90440	0.4431	10	0.62326	D	0.03	.	19.0727	0.93147	0.0:1.0:0.0:0.0	.	266;92;266	B7ZLV6;Q7L7X3-2;Q7L7X3	.;.;TAOK1_HUMAN	S	266	ENSP00000261716:P266S;ENSP00000438819:P266S	ENSP00000261716:P266S	P	+	1	0	TAOK1	24842974	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.857000	0.62939	2.590000	0.87494	0.455000	0.32223	CCT	-	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		0.333	TAOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK1	protein_coding	OTTHUMT00000447790.1	C	NM_020791	-		27818848	+1	no_errors	ENST00000261716	ensembl	human	known	74_37	missense	SNP	1.000	T
OR52B1P	81274	genome.wustl.edu	37	11	6173031	6173031	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:6173031G>A	ENST00000316506.1	-	1	787	c.788C>T	c.(787-789)tCa>tTa	p.S263L	RP11-290F24.3_ENST00000529961.1_RNA					olfactory receptor, family 52, subfamily B, member 1 pseudogene																		ATGATGGGATGAAGAAGAGGA	0.463																																																	0								ENSG00000180909																																			OR52B1P	SO:0001583	missense	0			-	HGNC			11p15.4	2013-09-24			ENSG00000180909	ENSG00000180909		"""GPCR / Class A : Olfactory receptors"""	15206	pseudogene	pseudogene							Standard	NG_004225		Approved					ENST00000316506.1:c.788C>T	11.37:g.6173031G>A	ENSP00000321133:p.Ser263Leu	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S263L	ENST00000316506.1	37	c.788		11	.	.	.	.	.	.	.	.	.	.	G	7.303	0.613493	0.14066	.	.	ENSG00000180909	ENST00000316506	T	0.00009	9.49	3.67	1.63	0.23807	.	0.313798	0.15509	N	0.258626	T	0.00039	0.0001	.	.	.	.	.	.	.	.	.	.	.	.	T	0.00400	-1.1763	6	0.02654	T	1	.	7.2625	0.26212	0.4153:0.0:0.5847:0.0	.	.	.	.	L	263	ENSP00000321133:S263L	ENSP00000321133:S263L	S	-	2	0	AC022762.1	6129607	0.000000	0.05858	0.041000	0.18516	0.732000	0.41865	-1.043000	0.03535	0.340000	0.23745	-0.152000	0.13540	TCA	-	pfscan_GPCR_Rhodpsn_7TM		0.463	OR52B1P-201	KNOWN	basic|appris_principal	protein_coding	OR52B1P	protein_coding		G		-		6173031	-1	no_errors	ENST00000316506	ensembl	human	known	74_37	missense	SNP	0.003	A
MST1R	4486	genome.wustl.edu	37	3	49934060	49934060	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:49934060G>A	ENST00000296474.3	-	9	2379	c.2352C>T	c.(2350-2352)tcC>tcT	p.S784S	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Silent_p.S784S	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	784	IPT/TIG 3.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGGTGATGTGGGAGTTGCTGT	0.547																																																	0								ENSG00000164078						136.0	119.0	125.0					3																	49934060		2203	4300	6503	MST1R	SO:0001819	synonymous_variant	0			-	HGNC	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.2352C>T	3.37:g.49934060G>A		Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	38	43.28	B5A944|B5A945|B5A946|B5A947	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.S784	ENST00000296474.3	37	c.2352	CCDS2807.1	3																																																																																			-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT		0.547	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	protein_coding	OTTHUMT00000345403.1	G		-		49934060	-1	no_errors	ENST00000296474	ensembl	human	known	74_37	silent	SNP	0.930	A
C7orf43	55262	genome.wustl.edu	37	7	99753454	99753454	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:99753454G>A	ENST00000316937.3	-	9	1426				C7orf43_ENST00000419841.1_Intron|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Intron|C7orf43_ENST00000394035.2_5'UTR|C7orf43_ENST00000498638.1_5'Flank	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43											breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTTTCCTGGGGGCAGAAACAG	0.592																																																	0								ENSG00000188186						38.0	36.0	37.0					7																	99753454		2203	4300	6503	LAMTOR4	SO:0001627	intron_variant	0			-	HGNC		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1241-6C>T	7.37:g.99753454G>A		Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11	A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000316937.3	37	NULL	CCDS5687.1	7	.	.	.	.	.	.	.	.	.	.	G	13.71	2.317725	0.40996	.	.	ENSG00000146826	ENST00000275726	.	.	.	5.36	3.41	0.39046	.	.	.	.	.	T	0.52948	0.1766	.	.	.	0.80722	D	1	B;B	0.21905	0.062;0.062	B;B	0.21360	0.034;0.034	T	0.56275	-0.8006	7	0.87932	D	0	.	10.5048	0.44828	0.0:0.0:0.6486:0.3514	.	34;38	Q8WVR3-2;Q8WVR3-3	.;.	L	34	.	ENSP00000275726:P34L	P	-	2	0	C7orf43	99591390	0.861000	0.29849	0.625000	0.29200	0.973000	0.67179	1.936000	0.40183	1.380000	0.46344	0.561000	0.74099	CCC	-	-		0.592	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR4	protein_coding	OTTHUMT00000337395.2	G	NM_018275	-		99753454	+1	no_errors	ENST00000490633	ensembl	human	known	74_37	rna	SNP	0.930	A
ZNF888	388559	genome.wustl.edu	37	19	53421202	53421202	+	lincRNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:53421202G>A	ENST00000596623.1	-	0	150							P0CJ79	ZN888_HUMAN	zinc finger protein 888						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AGTCAATCATGAATGTTAGAA	0.433																																																	0								ENSG00000213793																																			ZNF888			0			-	HGNC			19q13.41	2013-02-15			ENSG00000213793	ENSG00000213793		"""Zinc fingers, C2H2-type"", ""-"""	38695	protein-coding gene	gene with protein product							Standard	XM_005275849		Approved			P0CJ79			19.37:g.53421202G>A		Somatic	0	99	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	62	19.48		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000596623.1	37	NULL		19																																																																																			-	-		0.433	ZNF888-001	KNOWN	basic	lincRNA	ZNF888	lincRNA	OTTHUMT00000463875.1	G	XM_496322	-		53421202	-1	no_errors	ENST00000596623	ensembl	human	known	74_37	rna	SNP	0.003	A
UNC45A	55898	genome.wustl.edu	37	15	91479208	91479208	+	Silent	SNP	C	C	T	rs540905465	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:91479208C>T	ENST00000418476.2	+	3	286	c.246C>T	c.(244-246)tcC>tcT	p.S82S	AC068831.3_ENST00000448987.1_RNA|UNC45A_ENST00000394275.2_Silent_p.S67S|AC068831.3_ENST00000438890.1_RNA|UNC45A_ENST00000553671.2_3'UTR	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	82					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAGAGGCATCCAAAGGTAGGG	0.567																																																	0								ENSG00000140553						156.0	131.0	140.0					15																	91479208		2198	4298	6496	UNC45A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.246C>T	15.37:g.91479208C>T		Somatic	0	22	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S82	ENST00000418476.2	37	c.246	CCDS10367.1	15																																																																																			-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.567	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UNC45A	protein_coding	OTTHUMT00000280406.2	C	NM_018671	-		91479208	+1	no_errors	ENST00000418476	ensembl	human	known	74_37	silent	SNP	0.946	T
MAOB	4129	genome.wustl.edu	37	X	43662639	43662639	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:43662639G>A	ENST00000378069.4	-	4	439	c.292C>T	c.(292-294)Ccc>Tcc	p.P98S	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Missense_Mutation_p.P82S|MAOB_ENST00000538942.1_Missense_Mutation_p.P82S	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	98					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CCCCTGAAGGGGTATGATTTG	0.393																																																	0								ENSG00000069535						64.0	61.0	62.0					X																	43662639		2203	4300	6503	MAOB	SO:0001583	missense	0			-	HGNC		CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.292C>T	X.37:g.43662639G>A	ENSP00000367309:p.Pro98Ser	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	22	51.11	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.P98S	ENST00000378069.4	37	c.292	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	G	8.283	0.816060	0.16607	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	T;T;T	0.10860	2.83;2.83;2.83	5.45	1.27	0.21489	Amine oxidase (1);	0.232122	0.45867	D	0.000337	T	0.06325	0.0163	N	0.17872	0.535	0.45747	D	0.998641	B;B	0.16802	0.009;0.019	B;B	0.14578	0.007;0.011	T	0.30966	-0.9960	10	0.08179	T	0.78	-1.8551	13.4223	0.61005	0.0:0.4302:0.4609:0.1089	.	82;98	B7Z5H3;P27338	.;AOFB_HUMAN	S	98;82;82	ENSP00000367309:P98S;ENSP00000441613:P82S;ENSP00000442240:P82S	ENSP00000367309:P98S	P	-	1	0	MAOB	43547583	1.000000	0.71417	0.864000	0.33941	0.730000	0.41778	1.503000	0.35715	0.176000	0.19873	-0.558000	0.04189	CCC	-	pfam_Amino_oxidase,prints_Flavin_amine_oxidase		0.393	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	protein_coding	OTTHUMT00000056303.1	G	NM_000898	-		43662639	-1	no_errors	ENST00000378069	ensembl	human	known	74_37	missense	SNP	0.999	A
CTB-161M19.4	0	genome.wustl.edu	37	5	118347672	118347672	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:118347672C>T	ENST00000506486.1	-	0	292				CTB-161M19.4_ENST00000504820.1_RNA																							CTAGCTTTTCCTTTTTCCGGA	0.418																																																	0								ENSG00000249494																																			CTB-161M19.4			0			-	Clone_based_vega_gene																													5.37:g.118347672C>T		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	12	40.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000506486.1	37	NULL		5																																																																																			-	-		0.418	CTB-161M19.4-001	KNOWN	basic	antisense	ENSG00000249494	antisense	OTTHUMT00000371174.1	C		-		118347672	-1	no_errors	ENST00000504820	ensembl	human	known	74_37	rna	SNP	0.185	T
IRF9	10379	genome.wustl.edu	37	14	24631361	24631361	+	Missense_Mutation	SNP	C	C	T	rs367862499		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24631361C>T	ENST00000396864.3	+	2	295	c.8C>T	c.(7-9)tCa>tTa	p.S3L	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	3					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGGATGGCATCAGGCAGGGCA	0.557																																																	0								ENSG00000213928	C	LEU/SER	0,4406		0,0,2203	96.0	93.0	94.0		8	4.2	0.9	14		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	IRF9	NM_006084.4	145	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	3/394	24631361	1,13005	2203	4300	6503	IRF9	SO:0001583	missense	0			-	HGNC	M87503	CCDS9615.1	14q11.2	2007-07-06	2007-07-06	2007-07-06	ENSG00000213928	ENSG00000213928			6131	protein-coding gene	gene with protein product		147574	"""interferon-stimulated transcription factor 3, gamma (48kD)"", ""interferon-stimulated transcription factor 3, gamma 48kDa"""	ISGF3G		1630447, 10199920	Standard	NM_006084		Approved		uc001wmq.3	Q00978	OTTHUMG00000028799	ENST00000396864.3:c.8C>T	14.37:g.24631361C>T	ENSP00000380073:p.Ser3Leu	Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	44	12.00	D3DS61	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.S3L	ENST00000396864.3	37	c.8	CCDS9615.1	14	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454446	0.84209	0.0	1.16E-4	ENSG00000213928	ENST00000396864	D	0.97352	-4.35	5.08	4.19	0.49359	.	0.216271	0.29668	U	0.011506	D	0.95878	0.8658	L	0.51422	1.61	0.80722	D	1	P	0.51057	0.941	P	0.47864	0.559	D	0.95449	0.8532	10	0.66056	D	0.02	-0.681	12.5396	0.56161	0.0:0.9184:0.0:0.0816	.	3	Q00978	IRF9_HUMAN	L	3	ENSP00000380073:S3L	ENSP00000380073:S3L	S	+	2	0	IRF9	23701201	0.001000	0.12720	0.896000	0.35187	0.959000	0.62525	0.915000	0.28638	1.380000	0.46344	0.650000	0.86243	TCA	-	NULL		0.557	IRF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF9	protein_coding	OTTHUMT00000071927.2	C		-		24631361	+1	no_errors	ENST00000396864	ensembl	human	known	74_37	missense	SNP	0.803	T
ZNF341	84905	genome.wustl.edu	37	20	32345021	32345021	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:32345021G>A	ENST00000375200.1	+	6	1174	c.809G>A	c.(808-810)gGa>gAa	p.G270E	ZNF341_ENST00000342427.2_Missense_Mutation_p.G270E	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	270					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(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						GGCAAACAGGGATTCAAACCC	0.602																																																	0								ENSG00000131061						121.0	119.0	120.0					20																	32345021		2203	4300	6503	ZNF341	SO:0001583	missense	0			-	HGNC	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.809G>A	20.37:g.32345021G>A	ENSP00000364346:p.Gly270Glu	Somatic	0	146	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	90	15.74	A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G270E	ENST00000375200.1	37	c.809		20	.	.	.	.	.	.	.	.	.	.	G	13.44	2.236542	0.39498	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.10382	3.09;2.88	5.87	3.92	0.45320	.	0.335871	0.34507	N	0.003917	T	0.05777	0.0151	N	0.11560	0.145	0.30871	N	0.732444	B;B;B	0.13145	0.007;0.003;0.005	B;B;B	0.14578	0.005;0.005;0.011	T	0.16158	-1.0412	10	0.27785	T	0.31	-2.8414	9.5751	0.39452	0.2154:0.0:0.7846:0.0	.	211;270;270	Q504V9;Q9BYN7;Q9BYN7-2	.;ZN341_HUMAN;.	E	270	ENSP00000344308:G270E;ENSP00000364346:G270E	ENSP00000344308:G270E	G	+	2	0	ZNF341	31808682	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	4.303000	0.59098	0.921000	0.36994	-0.150000	0.13652	GGA	-	NULL		0.602	ZNF341-201	KNOWN	basic	protein_coding	ZNF341	protein_coding		G		-		32345021	+1	no_errors	ENST00000375200	ensembl	human	known	74_37	missense	SNP	0.996	A
LAMA3	3909	genome.wustl.edu	37	18	21526166	21526166	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:21526166G>A	ENST00000313654.9	+	70	9510	c.9269G>A	c.(9268-9270)cGg>cAg	p.R3090Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.R1425Q|LAMA3_ENST00000399516.3_Missense_Mutation_p.R3034Q|LAMA3_ENST00000269217.6_Missense_Mutation_p.R1481Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3090	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CTGAGGGCCCGGGAGGGAAGT	0.493																																																	0								ENSG00000053747						112.0	93.0	99.0					18																	21526166		2203	4300	6503	LAMA3	SO:0001583	missense	0			-	HGNC	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.9269G>A	18.37:g.21526166G>A	ENSP00000324532:p.Arg3090Gln	Somatic	0	128	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	57	19.72	B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R3090Q	ENST00000313654.9	37	c.9269	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	6.461	0.453305	0.12283	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.76709	-1.04;-1.04;-1.04	5.14	-2.58	0.06228	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.52092	0.1713	N	0.04355	-0.22	0.09310	N	1	B;B;B;B	0.26845	0.01;0.013;0.06;0.161	B;B;B;B	0.17722	0.004;0.005;0.013;0.019	T	0.30621	-0.9972	9	0.19590	T	0.45	.	12.5233	0.56072	0.6398:0.0:0.3602:0.0	.	1425;1481;3034;3090	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	Q	3090;3034;1481	ENSP00000324532:R3090Q;ENSP00000382432:R3034Q;ENSP00000269217:R1481Q	ENSP00000269217:R1481Q	R	+	2	0	LAMA3	19780164	0.004000	0.15560	0.314000	0.25224	0.944000	0.59088	-0.848000	0.04326	-0.326000	0.08564	-0.140000	0.14226	CGG	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.493	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	protein_coding	OTTHUMT00000254824.3	G	NM_000227, NM_198129	-		21526166	+1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	SNP	0.005	A
MKRN3	7681	genome.wustl.edu	37	15	23810930	23810930	+	Start_Codon_SNP	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:23810930A>G	ENST00000314520.3	+	1	477	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	MKRN3_ENST00000564592.1_Start_Codon_SNP_p.M1V|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Start_Codon_SNP_p.M1V	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	1					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CAAAGCAGCCATGGAAGAGCC	0.642																																																	0								ENSG00000179455						13.0	18.0	16.0					15																	23810930		2192	4290	6482	MKRN3	SO:0001582	initiator_codon_variant	0			-	HGNC	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1A>G	15.37:g.23810930A>G	ENSP00000313881:p.Met1Val	Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.M1V	ENST00000314520.3	37	c.1	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	a	5.061	0.196978	0.09599	.	.	ENSG00000179455	ENST00000314520	T	0.32515	1.45	3.36	3.36	0.38483	.	.	.	.	.	T	0.50480	0.1618	.	.	.	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.73708	0.981;0.935	T	0.53351	-0.8451	8	0.87932	D	0	.	8.4493	0.32860	1.0:0.0:0.0:0.0	.	1;1	Q6NSB6;Q13064	.;MKRN3_HUMAN	V	1	ENSP00000313881:M1V	ENSP00000313881:M1V	M	+	1	0	MKRN3	21362023	0.977000	0.34250	0.859000	0.33776	0.184000	0.23303	3.262000	0.51538	1.761000	0.52028	0.460000	0.39030	ATG	-	NULL		0.642	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	protein_coding	OTTHUMT00000251225.1	A	NM_005664	-	Missense_Mutation	23810930	+1	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	SNP	0.877	G
ADAMTS18	170692	genome.wustl.edu	37	16	77334275	77334275	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:77334275C>T	ENST00000282849.5	-	17	2977	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	853	Spacer.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TCCAAGCTATCCCTGGATTTT	0.453																																																	0								ENSG00000140873						121.0	108.0	112.0					16																	77334275		2198	4300	6498	ADAMTS18	SO:0001819	synonymous_variant	0			-	HGNC	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.2559G>A	16.37:g.77334275C>T		Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	Q6P4R5|Q6ZWJ9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G853	ENST00000282849.5	37	c.2559	CCDS10926.1	16																																																																																			-	pfam_ADAM_spacer1		0.453	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS18	protein_coding	OTTHUMT00000269037.1	C		-		77334275	-1	no_errors	ENST00000282849	ensembl	human	known	74_37	silent	SNP	0.991	T
G3BP1	10146	genome.wustl.edu	37	5	151183496	151183496	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:151183496T>C	ENST00000394123.3	+	12	1390	c.1245T>C	c.(1243-1245)acT>acC	p.T415T	G3BP1_ENST00000543466.1_Silent_p.T233T|G3BP1_ENST00000356245.3_Silent_p.T415T			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	415	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Ras protein signal transduction (GO:0007265)|transport (GO:0006810)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGAAGAAGACTCGAGCTGCCA	0.572																																																	0								ENSG00000145907						78.0	80.0	79.0					5																	151183496		2203	4300	6503	G3BP1	SO:0001819	synonymous_variant	0			-	HGNC	BC006997	CCDS4319.1	5q33.1	2013-02-12	2006-11-01		ENSG00000145907	ENSG00000145907		"""RNA binding motif (RRM) containing"""	30292	protein-coding gene	gene with protein product	"""Ras-GTPase-activating protein SH3-domain-binding protein"""	608431				8649363, 9889278	Standard	NM_005754		Approved	HDH-VIII, G3BP	uc003lum.3	Q13283	OTTHUMG00000130123	ENST00000394123.3:c.1245T>C	5.37:g.151183496T>C		Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	12	50.00	Q5HYE9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk	p.T415	ENST00000394123.3	37	c.1245	CCDS4319.1	5																																																																																			-	pfscan_RRM_dom		0.572	G3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	G3BP1	protein_coding	OTTHUMT00000252431.1	T	NM_005754	-		151183496	+1	no_errors	ENST00000356245	ensembl	human	known	74_37	silent	SNP	0.948	C
MUC17	140453	genome.wustl.edu	37	7	100684070	100684070	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:100684070C>T	ENST00000306151.4	+	3	9437	c.9373C>T	c.(9373-9375)Ctt>Ttt	p.L3125F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3125	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.L3125I(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AATCAGCACCCTTTCAACAAC	0.498																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000169876						296.0	303.0	300.0					7																	100684070		2203	4300	6503	MUC17	SO:0001583	missense	0			-	HGNC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9373C>T	7.37:g.100684070C>T	ENSP00000302716:p.Leu3125Phe	Somatic	0	111	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	28	42.86	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.L3125F	ENST00000306151.4	37	c.9373	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	c	1.790	-0.479716	0.04383	.	.	ENSG00000169876	ENST00000306151	T	0.02525	4.26	0.951	-1.13	0.09775	.	.	.	.	.	T	0.01592	0.0051	N	0.04880	-0.145	0.09310	N	1	B	0.17667	0.023	B	0.23419	0.046	T	0.46707	-0.9172	9	0.52906	T	0.07	.	4.4854	0.11787	0.0:0.2416:0.0:0.7584	.	3125	Q685J3	MUC17_HUMAN	F	3125	ENSP00000302716:L3125F	ENSP00000302716:L3125F	L	+	1	0	MUC17	100470790	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-5.938000	0.00089	-0.180000	0.10637	0.121000	0.15741	CTT	-	NULL		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	protein_coding	OTTHUMT00000347161.1	C	NM_001040105	-		100684070	+1	no_errors	ENST00000306151	ensembl	human	known	74_37	missense	SNP	0.004	T
CDC25B	994	genome.wustl.edu	37	20	3782642	3782642	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:3782642C>T	ENST00000245960.5	+	10	1690	c.993C>T	c.(991-993)ccC>ccT	p.P331P	CDC25B_ENST00000340833.4_Silent_p.P290P|CDC25B_ENST00000439880.2_Silent_p.P317P|CDC25B_ENST00000379598.5_Silent_p.P240P|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Silent_p.P267P	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	331					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TGATCCGGCCCATCCTCAAGA	0.657																																																	0								ENSG00000101224						24.0	22.0	23.0					20																	3782642		2202	4300	6502	CDC25B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.993C>T	20.37:g.3782642C>T		Somatic	0	79	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	39	26.42	D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase	p.P331	ENST00000245960.5	37	c.993	CCDS13067.1	20																																																																																			-	pfam_MPI_Phosphatase		0.657	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC25B	protein_coding	OTTHUMT00000077779.2	C	NM_021874	-		3782642	+1	no_errors	ENST00000245960	ensembl	human	known	74_37	silent	SNP	1.000	T
OR52N4	390072	genome.wustl.edu	37	11	5776913	5776913	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5776913G>A	ENST00000317254.3	+	1	991	c.943G>A	c.(943-945)Gat>Aat	p.D315N	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	315						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AGGTTCTAAGGATACCAAATC	0.403																																																	0								ENSG00000181074						62.0	57.0	59.0					11																	5776913		1885	4116	6001	OR52N4	SO:0001583	missense	0			-	HGNC	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.943G>A	11.37:g.5776913G>A	ENSP00000323224:p.Asp315Asn	Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	B2RNP8|Q6IF77	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.D315N	ENST00000317254.3	37	c.943	CCDS44528.1	11	.	.	.	.	.	.	.	.	.	.	G	7.293	0.611473	0.14066	.	.	ENSG00000181074	ENST00000317254	T	0.00468	7.22	5.13	2.0	0.26442	.	0.539313	0.15172	N	0.276564	T	0.00271	0.0008	N	0.25647	0.755	0.22171	N	0.999316	B	0.06786	0.001	B	0.06405	0.002	T	0.41016	-0.9532	10	0.28530	T	0.3	.	2.9086	0.05730	0.255:0.0:0.5306:0.2144	.	315	Q8NGI2	O52N4_HUMAN	N	315	ENSP00000323224:D315N	ENSP00000323224:D315N	D	+	1	0	OR52N4	5733489	0.000000	0.05858	0.889000	0.34880	0.226000	0.24999	-0.209000	0.09358	0.743000	0.32719	0.644000	0.83932	GAT	-	NULL		0.403	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N4	protein_coding	OTTHUMT00000143350.1	G	NM_001005175	-		5776913	+1	no_errors	ENST00000317254	ensembl	human	known	74_37	missense	SNP	0.733	A
MMP9	4318	genome.wustl.edu	37	20	44642544	44642544	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:44642544C>T	ENST00000372330.3	+	10	1769				RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)						collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	gaaaaatacgccccctggcgg	0.607											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000204044																																			RP11-465L10.10	SO:0001627	intron_variant	0			-	Clone_based_vega_gene		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	ENST00000372330.3:c.1750+109C>T	20.37:g.44642544C>T		Somatic	0	17	0.00	925	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	3	72.73	B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372330.3	37	NULL	CCDS13390.1	20																																																																																			-	-		0.607	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000204044	protein_coding	OTTHUMT00000080337.1	C		-		44642544	-1	no_errors	ENST00000535913	ensembl	human	known	74_37	rna	SNP	0.000	T
LRP1B	53353	genome.wustl.edu	37	2	142238075	142238075	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:142238075G>A	ENST00000389484.3	-	3	1204	c.233C>T	c.(232-234)cCc>cTc	p.P78L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	78	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGATTCAAGGGGCACTTGAT	0.408										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0								ENSG00000168702						134.0	119.0	124.0					2																	142238075		2203	4300	6503	LRP1B	SO:0001583	missense	0			-	HGNC	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.233C>T	2.37:g.142238075G>A	ENSP00000374135:p.Pro78Leu	Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.P78L	ENST00000389484.3	37	c.233	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	G	14.50	2.553595	0.45487	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95307	-3.67	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.94149	0.8123	M	0.66439	2.03	0.54753	D	0.99998	B	0.25351	0.124	B	0.35655	0.207	D	0.90856	0.4735	10	0.22706	T	0.39	.	17.0733	0.86580	0.0:0.1265:0.8735:0.0	.	78	Q9NZR2	LRP1B_HUMAN	L	78;14	ENSP00000374135:P78L	ENSP00000374135:P78L	P	-	2	0	LRP1B	141954545	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	7.194000	0.77789	2.836000	0.97738	0.655000	0.94253	CCC	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.408	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	protein_coding	OTTHUMT00000254736.2	G	NM_018557	-		142238075	-1	no_errors	ENST00000389484	ensembl	human	known	74_37	missense	SNP	1.000	A
PIN4	5303	genome.wustl.edu	37	X	71417246	71417246	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:71417246C>T	ENST00000373669.2	+	4	373	c.341C>T	c.(340-342)tCc>tTc	p.S114F	PIN4_ENST00000423432.2_Intron|RN7SL388P_ENST00000498736.2_RNA|PIN4_ENST00000218432.5_3'UTR	NM_006223.3	NP_006214.2	Q9Y237	PIN4_HUMAN	protein (peptidylprolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)	89	PpiC. {ECO:0000255|PROSITE- ProRule:PRU00278}.				protein folding (GO:0006457)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome (GO:0030684)|spindle (GO:0005819)	bent DNA binding (GO:0003681)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(2)	3	Renal(35;0.156)					ACCAGAGGGTCCATGGTGGGA	0.458																																																	0								ENSG00000102309						80.0	65.0	70.0					X																	71417246		2203	4300	6503	PIN4	SO:0001583	missense	0			-	HGNC	AB009690	CCDS14417.1, CCDS55447.1	Xq13.1	2008-02-05	2006-01-12		ENSG00000102309	ENSG00000102309			8992	protein-coding gene	gene with protein product		300252	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting, 4 (parvulin)"""			16522211, 17875217	Standard	NM_006223		Approved	PAR14, PAR17, EPVH	uc004eam.3	Q9Y237	OTTHUMG00000021811	ENST00000373669.2:c.341C>T	X.37:g.71417246C>T	ENSP00000362773:p.Ser114Phe	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	5	79.17	A8E0G6|B3KXM0|F5H1P5|Q0D2H3|Q3MHV0|Q52M21|Q5HYW6|Q6IRW4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PPIase_PpiC,pfscan_PPIase_PpiC	p.S114F	ENST00000373669.2	37	c.341	CCDS14417.1	X	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757203	0.89843	.	.	ENSG00000102309	ENST00000373669	.	.	.	5.34	5.34	0.76211	.	0.051675	0.85682	D	0.000000	T	0.77671	0.4165	M	0.72118	2.19	0.80722	D	1	D	0.64830	0.994	D	0.71184	0.972	T	0.80520	-0.1346	9	0.87932	D	0	-5.2334	15.3582	0.74443	0.0:1.0:0.0:0.0	.	114	Q9Y237-2	.	F	114	.	ENSP00000362773:S114F	S	+	2	0	PIN4	71333971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.250000	0.78287	2.218000	0.71995	0.600000	0.82982	TCC	-	pfam_PPIase_PpiC,pfscan_PPIase_PpiC		0.458	PIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN4	protein_coding	OTTHUMT00000057175.2	C	NM_006223	-		71417246	+1	no_errors	ENST00000373669	ensembl	human	known	74_37	missense	SNP	1.000	T
PLA1A	51365	genome.wustl.edu	37	3	119325719	119325719	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:119325719C>T	ENST00000273371.4	+	2	244	c.172C>T	c.(172-174)Cct>Tct	p.P58S	PLA1A_ENST00000495992.1_Missense_Mutation_p.P58S|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.P42S	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	58					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTTGTCCCTTCGAATCC	0.507																																																	0								ENSG00000144837						151.0	154.0	153.0					3																	119325719		2203	4300	6503	PLA1A	SO:0001583	missense	0			-	HGNC	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.172C>T	3.37:g.119325719C>T	ENSP00000273371:p.Pro58Ser	Somatic	0	51	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.P58S	ENST00000273371.4	37	c.172	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	C	5.695	0.312688	0.10789	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.93019	-3.15;-3.15;-3.15	5.04	3.23	0.37069	Lipase, N-terminal (1);	0.277004	0.42294	N	0.000729	D	0.84279	0.5437	L	0.31420	0.93	0.09310	N	1	B;B	0.23058	0.079;0.007	B;B	0.20184	0.028;0.012	T	0.67051	-0.5768	10	0.08837	T	0.75	-2.579	4.5858	0.12282	0.1775:0.644:0.0:0.1785	.	58;58	Q53H76-3;Q53H76	.;PLA1A_HUMAN	S	58;58;42	ENSP00000273371:P58S;ENSP00000417326:P58S;ENSP00000418793:P42S	ENSP00000273371:P58S	P	+	1	0	PLA1A	120808409	0.006000	0.16342	0.069000	0.20011	0.278000	0.26855	0.332000	0.19751	0.817000	0.34445	0.655000	0.94253	CCT	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.507	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	protein_coding	OTTHUMT00000355252.2	C		-		119325719	+1	no_errors	ENST00000273371	ensembl	human	known	74_37	missense	SNP	0.026	T
PKD1L1	168507	genome.wustl.edu	37	7	47835734	47835734	+	Silent	SNP	G	G	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:47835734G>C	ENST00000289672.2	-	55	8258	c.8208C>G	c.(8206-8208)ctC>ctG	p.L2736L	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2736					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTAAAGTCATGAGAAAACCTC	0.333																																																	0								ENSG00000158683						50.0	53.0	52.0					7																	47835734		2203	4298	6501	PKD1L1	SO:0001819	synonymous_variant	0			-	HGNC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.8208C>G	7.37:g.47835734G>C		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	Q6UWK1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_PLAT/LH2_dom,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like	p.L2736	ENST00000289672.2	37	c.8208	CCDS34633.1	7																																																																																			-	NULL		0.333	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD1L1	protein_coding	OTTHUMT00000340974.1	G	NM_138295	-		47835734	-1	no_errors	ENST00000289672	ensembl	human	known	74_37	silent	SNP	0.015	C
TP53BP2	7159	genome.wustl.edu	37	1	223987656	223987656	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:223987656G>A	ENST00000343537.7	-	11	1721	c.1430C>T	c.(1429-1431)tCc>tTc	p.S477F	TP53BP2_ENST00000391879.2_5'UTR|TP53BP2_ENST00000391878.2_Missense_Mutation_p.S348F|TP53BP2_ENST00000498843.1_5'UTR	NM_001031685.2	NP_001026855.2	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein 2	471					cell cycle (GO:0007049)|central nervous system development (GO:0007417)|embryo development ending in birth or egg hatching (GO:0009792)|heart development (GO:0007507)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)|positive regulation of signal transduction (GO:0009967)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		AGTACCAAAGGAAGGTGGGGC	0.428																																																	0								ENSG00000143514						156.0	134.0	141.0					1																	223987656		2203	4300	6503	TP53BP2	SO:0001583	missense	0			-	HGNC	U09582	CCDS1538.1, CCDS44319.1	1q41	2014-06-24	2014-06-24		ENSG00000143514	ENSG00000143514		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	12000	protein-coding gene	gene with protein product		602143	"""tumor protein p53-binding protein, 2"""			8668206, 8016121	Standard	NM_005426		Approved	PPP1R13A, ASPP2, 53BP2	uc010pvb.2	Q13625	OTTHUMG00000037379	ENST00000343537.7:c.1430C>T	1.37:g.223987656G>A	ENSP00000341957:p.Ser477Phe	Somatic	0	83	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	B4DG66|Q12892|Q86X75|Q96KQ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.S477F	ENST00000343537.7	37	c.1430	CCDS44319.1	1	.	.	.	.	.	.	.	.	.	.	G	5.687	0.311260	0.10789	.	.	ENSG00000143514	ENST00000391878;ENST00000343537	T;T	0.49720	0.77;0.94	5.83	4.9	0.64082	.	1.211010	0.05305	N	0.523603	T	0.42720	0.1215	L	0.36672	1.1	0.49915	D	0.999837	B;B	0.33448	0.412;0.26	B;B	0.32022	0.133;0.139	T	0.12941	-1.0528	10	0.62326	D	0.03	.	9.6444	0.39859	0.0:0.1545:0.6852:0.1603	.	477;471	B4DG66;Q13625	.;ASPP2_HUMAN	F	348;477	ENSP00000375750:S348F;ENSP00000341957:S477F	ENSP00000341957:S477F	S	-	2	0	TP53BP2	222054279	1.000000	0.71417	0.067000	0.19924	0.173000	0.22820	5.304000	0.65744	1.440000	0.47531	0.655000	0.94253	TCC	-	NULL		0.428	TP53BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53BP2	protein_coding	OTTHUMT00000090985.3	G	NM_001031685, NM_005426	-		223987656	-1	no_errors	ENST00000343537	ensembl	human	known	74_37	missense	SNP	0.228	A
GAD2	2572	genome.wustl.edu	37	10	26581852	26581852	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:26581852T>C	ENST00000376261.3	+	15	2019	c.1516T>C	c.(1516-1518)Ttc>Ctc	p.F506L	GAD2_ENST00000259271.3_Missense_Mutation_p.F506L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	506					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAATGTCTGCTTCTGGTACAT	0.448																																																	0								ENSG00000136750						231.0	235.0	234.0					10																	26581852		2203	4300	6503	GAD2	SO:0001583	missense	0			-	HGNC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1516T>C	10.37:g.26581852T>C	ENSP00000365437:p.Phe506Leu	Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q9UD87	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.F506L	ENST00000376261.3	37	c.1516	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	T	29.3	4.996426	0.93167	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.68765	-0.35;-0.35	4.92	4.92	0.64577	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	H	0.96576	3.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91804	0.5454	10	0.87932	D	0	-17.1667	14.8682	0.70434	0.0:0.0:0.0:1.0	.	506	Q05329	DCE2_HUMAN	L	506	ENSP00000365437:F506L;ENSP00000259271:F506L	ENSP00000259271:F506L	F	+	1	0	GAD2	26621858	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.655000	0.83696	1.968000	0.57251	0.533000	0.62120	TTC	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase		0.448	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	protein_coding	OTTHUMT00000047255.1	T	NM_000818	-		26581852	+1	no_errors	ENST00000259271	ensembl	human	known	74_37	missense	SNP	1.000	C
PRKD1	5587	genome.wustl.edu	37	14	30046618	30046618	+	Silent	SNP	G	G	A	rs143388121		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:30046618G>A	ENST00000331968.5	-	18	2794	c.2565C>T	c.(2563-2565)atC>atT	p.I855I	PRKD1_ENST00000415220.2_Silent_p.I863I	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	855					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.I855I(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGCGCTCCCCGATTTTGCATT	0.468																																																	2	Substitution - coding silent(2)	large_intestine(2)						ENSG00000184304	G		0,4406		0,0,2203	122.0	112.0	115.0		2565	-8.1	0.8	14	dbSNP_134	115	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PRKD1	NM_002742.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		855/913	30046618	1,13005	2203	4300	6503	PRKD1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2565C>T	14.37:g.30046618G>A		Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	A6NL64|B2RAF6	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_Pleckstrin_homology,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.I855	ENST00000331968.5	37	c.2565	CCDS9637.1	14																																																																																			-	superfamily_Kinase-like_dom		0.468	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	G	NM_002742	rs143388121		30046618	-1	no_errors	ENST00000331968	ensembl	human	known	74_37	silent	SNP	0.191	A
ACTBL2	345651	genome.wustl.edu	37	5	56778454	56778454	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:56778454G>A	ENST00000423391.1	-	1	182	c.81C>T	c.(79-81)gcC>gcT	p.A27A	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	27						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CAGCCCGGGGGGCATCGTCAC	0.582																																																	0								ENSG00000169067						83.0	58.0	66.0					5																	56778454		2203	4300	6503	ACTBL2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.81C>T	5.37:g.56778454G>A		Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	101	21	81.45	B2RPJ1|Q562R2|Q562S9|Q562X8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.A27	ENST00000423391.1	37	c.81	CCDS34163.1	5																																																																																			-	pfam_Actin-related,smart_Actin-related,prints_Actin-related		0.582	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBL2	protein_coding	OTTHUMT00000368579.1	G	NM_001017992	-		56778454	-1	no_errors	ENST00000423391	ensembl	human	known	74_37	silent	SNP	0.999	A
ATP7A	538	genome.wustl.edu	37	X	77289141	77289141	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:77289141C>T	ENST00000341514.6	+	17	3488	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	ATP7A_ENST00000350425.4_Silent_p.F114F|ATP7A_ENST00000343533.5_Silent_p.F1033F	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1111					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCATAGATTTCCAGGTTGTGC	0.383																																																	0								ENSG00000165240						107.0	98.0	101.0					X																	77289141		2203	4296	6499	ATP7A	SO:0001819	synonymous_variant	0			-	HGNC	L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.3333C>T	X.37:g.77289141C>T		Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	B1AT72|O00227|O00745|Q9BYY8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_Cation_transp_P_typ_ATPase,prints_HG_scavenger,tigrfam_Cation_transp_P-typ_ATPase_IB,tigrfam_Cation_transp_P_typ_ATPase,tigrfam_HMA_Cu_ion-bd	p.F1111	ENST00000341514.6	37	c.3333	CCDS35339.1	X																																																																																			-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_Cation_transp_P-typ_ATPase_IB		0.383	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	protein_coding	OTTHUMT00000057306.1	C	NM_000052	-		77289141	+1	no_errors	ENST00000341514	ensembl	human	known	74_37	silent	SNP	1.000	T
AQR	9716	genome.wustl.edu	37	15	35166194	35166194	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:35166194G>A	ENST00000156471.5	-	30	3657	c.3432C>T	c.(3430-3432)tgC>tgT	p.C1144C		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1144					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TGTAGAGGTTGCACAAGCTTT	0.398																																																	0								ENSG00000021776						69.0	63.0	65.0					15																	35166194		1837	4083	5920	AQR	SO:0001819	synonymous_variant	0			-	HGNC	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3432C>T	15.37:g.35166194G>A		Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase	p.C1144	ENST00000156471.5	37	c.3432	CCDS42013.1	15																																																																																			-	superfamily_P-loop_NTPase		0.398	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	protein_coding	OTTHUMT00000417526.2	G	NM_014691	-		35166194	-1	no_errors	ENST00000156471	ensembl	human	known	74_37	silent	SNP	0.999	A
PLK5	126520	genome.wustl.edu	37	19	1533980	1533980	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:1533980C>T	ENST00000334770.4	+	12	1654	c.765C>T	c.(763-765)ctC>ctT	p.L255L	PLK5_ENST00000454744.2_Silent_p.L255L			Q496M5	PLK5_HUMAN	polo-like kinase 5	255					cellular response to growth factor stimulus (GO:0071363)|defense response to tumor cell (GO:0002357)|G2 DNA damage checkpoint (GO:0031572)|mitotic nuclear division (GO:0007067)|positive regulation of neuron projection development (GO:0010976)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|transformed cell apoptotic process (GO:0006927)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)										GCCTCTGCCTCCTGCGCTTCC	0.692																																																	0								ENSG00000185988																																			PLK5	SO:0001819	synonymous_variant	0			-	HGNC	DQ424898	CCDS59328.1	19p13.3	2012-11-19	2011-07-14	2011-07-14	ENSG00000185988	ENSG00000185988			27001	protein-coding gene	gene with protein product			"""polo-like kinase 5 pseudogene"", ""polo-like kinase 5, pseudogene"""	PLK5P		21245385	Standard	NM_001243079		Approved	SgK384ps	uc002ltf.3	Q496M5	OTTHUMG00000180073	ENST00000334770.4:c.765C>T	19.37:g.1533980C>T		Somatic	0	150	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	111	9.76	B3KNR4|Q1ZYM0	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom	p.L255	ENST00000334770.4	37	c.765	CCDS59328.1	19																																																																																			-	NULL		0.692	PLK5-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLK5	protein_coding	OTTHUMT00000449628.1	C	NR_026557	-		1533980	+1	no_errors	ENST00000334770	ensembl	human	known	74_37	silent	SNP	0.993	T
PCDHGA4	56111	genome.wustl.edu	37	5	140734786	140734786	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140734786C>T	ENST00000571252.1	+	1	19	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018917.2	NP_061740	Q9Y5G9	PCDG4_HUMAN	protocadherin gamma subfamily A, 4	7					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTCCTGCTCGCCCAGACCA	0.617																																																	0								ENSG00000262576						23.0	29.0	27.0					5																	140734786		1916	4142	6058	PCDHGA4	SO:0001583	missense	0			-	HGNC	AF152511	CCDS58979.1, CCDS58979.2, CCDS75331.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8702	other	protocadherin		606291				10380929	Standard	NM_018917		Approved	PCDH-GAMMA-A4		Q9Y5G9		ENST00000571252.1:c.19C>T	5.37:g.140734786C>T	ENSP00000458570:p.Arg7Cys	Somatic	0	152	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	41	50.59	Q9Y5D3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R7C	ENST00000571252.1	37	c.19	CCDS58979.1	5																																																																																			-	NULL		0.617	PCDHGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA4	protein_coding	OTTHUMT00000437959.1	C	NM_018917	-		140734786	+1	no_errors	ENST00000571252	ensembl	human	known	74_37	missense	SNP	0.000	T
IPO13	9670	genome.wustl.edu	37	1	44432656	44432656	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:44432656G>A	ENST00000372343.3	+	18	3240	c.2578G>A	c.(2578-2580)Gaa>Aaa	p.E860K	IPO13_ENST00000372339.3_Missense_Mutation_p.E78K	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	860					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGTGGTACAGGAAGACGGTCG	0.607																																																	0								ENSG00000117408						98.0	98.0	98.0					1																	44432656		2203	4300	6503	IPO13	SO:0001583	missense	0			-	HGNC	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.2578G>A	1.37:g.44432656G>A	ENSP00000361418:p.Glu860Lys	Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E860K	ENST00000372343.3	37	c.2578	CCDS503.1	1	.	.	.	.	.	.	.	.	.	.	G	13.91	2.376817	0.42105	.	.	ENSG00000117408	ENST00000372343;ENST00000372339	.	.	.	4.49	4.49	0.54785	.	0.213163	0.41001	D	0.000965	T	0.42426	0.1202	L	0.29908	0.895	0.58432	D	0.999997	B;B	0.22909	0.077;0.001	B;B	0.21546	0.035;0.003	T	0.26643	-1.0097	9	0.11794	T	0.64	-14.9977	12.7862	0.57507	0.0836:0.0:0.9164:0.0	.	78;860	Q5T4X2;O94829	.;IPO13_HUMAN	K	860;78	.	ENSP00000361414:E78K	E	+	1	0	IPO13	44205243	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.516000	0.81772	2.036000	0.60181	0.410000	0.27636	GAA	-	NULL		0.607	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO13	protein_coding	OTTHUMT00000022846.1	G	NM_014652	-		44432656	+1	no_errors	ENST00000372343	ensembl	human	known	74_37	missense	SNP	1.000	A
ZP3	7784	genome.wustl.edu	37	7	76058845	76058845	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:76058845C>T	ENST00000394857.3	+	2	384	c.326C>T	c.(325-327)gCc>gTc	p.A109V	ZP3_ENST00000416245.1_5'UTR|ZP3_ENST00000336517.4_Missense_Mutation_p.A58V	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	109	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				binding of sperm to zona pellucida (GO:0007339)|blastocyst formation (GO:0001825)|calcium ion transmembrane transport (GO:0070588)|egg coat formation (GO:0035803)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|negative regulation of transcription, DNA-templated (GO:0045892)|oocyte development (GO:0048599)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of acrosomal vesicle exocytosis (GO:2000368)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of antral ovarian follicle growth (GO:2000388)|positive regulation of calcium ion import (GO:0090280)|positive regulation of humoral immune response (GO:0002922)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of ovarian follicle development (GO:2000386)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type IV hypersensitivity (GO:0001809)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|outer acrosomal membrane (GO:0002081)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|carbohydrate binding (GO:0030246)|manganese ion transmembrane transporter activity (GO:0005384)|signal transducer activity (GO:0004871)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ACTGACGATGCCCTGGTGTAC	0.607																																																	0								ENSG00000188372						122.0	88.0	100.0					7																	76058845		2203	4300	6503	ZP3	SO:0001583	missense	0			-	HGNC	M60504	CCDS5586.1, CCDS47618.1	7q11.23	2014-07-04	2002-09-17	2002-09-20	ENSG00000188372	ENSG00000188372		"""Zona pellucida glycoproteins"""	13189	protein-coding gene	gene with protein product		182889	"""zona pellucida glycoprotein 3A (sperm receptor)"""	ZP3A, ZP3B		1478648	Standard	NM_007155		Approved	ZP3-424, ZP3-372, ZPC	uc003ufd.4	P21754	OTTHUMG00000130575	ENST00000394857.3:c.326C>T	7.37:g.76058845C>T	ENSP00000378326:p.Ala109Val	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q06633|Q29RW0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.A109V	ENST00000394857.3	37	c.326	CCDS47618.1	7	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657739	0.29425	.	.	ENSG00000188372	ENST00000336517;ENST00000394857;ENST00000544121	D;D	0.82167	-1.58;-1.58	5.21	3.3	0.37823	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	1.215340	0.05967	N	0.641653	D	0.88100	0.6346	M	0.69823	2.125	0.19945	N	0.999941	D;P	0.64830	0.994;0.471	P;B	0.59424	0.857;0.126	T	0.74722	-0.3569	10	0.25106	T	0.35	-20.7788	9.3218	0.37968	0.1402:0.6074:0.2524:0.0	.	58;109	P21754-3;P21754	.;ZP3_HUMAN	V	58;109;109	ENSP00000337310:A58V;ENSP00000378326:A109V	ENSP00000337310:A58V	A	+	2	0	ZP3	75896781	0.000000	0.05858	0.708000	0.30435	0.439000	0.31926	0.590000	0.23954	2.444000	0.82710	0.555000	0.69702	GCC	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.607	ZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP3	protein_coding	OTTHUMT00000253004.1	C		-		76058845	+1	no_errors	ENST00000394857	ensembl	human	known	74_37	missense	SNP	0.145	T
CORO7	79585	genome.wustl.edu	37	16	4405322	4405322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:4405322delG	ENST00000251166.4	-	27	2882	c.2737delC	c.(2737-2739)cagfs	p.Q913fs	CORO7_ENST00000539968.1_Frame_Shift_Del_p.Q693fs|CORO7_ENST00000574025.1_Frame_Shift_Del_p.Q828fs|CORO7-PAM16_ENST00000572274.1_5'UTR|CORO7-PAM16_ENST00000572467.1_Frame_Shift_Del_p.Q913fs|PAM16_ENST00000576217.1_Intron|CORO7_ENST00000537233.2_Frame_Shift_Del_p.Q895fs	NM_024535.4	NP_078811.3	P57737	CORO7_HUMAN	coronin 7	913					actin filament polymerization (GO:0030041)|Golgi to endosome transport (GO:0006895)|protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)			breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AAGGAGTCCTGGGGGAGTGGG	0.617																																																	0								ENSG00000103426						52.0	42.0	45.0					16																	4405322		2197	4300	6497	CORO7-PAM16	SO:0001589	frameshift_variant	0				HGNC	AK097238	CCDS10513.1, CCDS55982.1, CCDS58417.1	16p13.3	2013-01-10			ENSG00000262246	ENSG00000262246		"""Coronins"", ""WD repeat domain containing"""	26161	protein-coding gene	gene with protein product		611668				15327992	Standard	NM_024535		Approved	FLJ22021		P57737	OTTHUMG00000129465	ENST00000251166.4:c.2737delC	16.37:g.4405322delG	ENSP00000251166:p.Gln913fs	Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	B4DFD6|B4DL18|I3L416|Q17RK4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q913fs	ENST00000251166.4	37	c.2737	CCDS10513.1	16																																																																																			-	NULL		0.617	CORO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO7-PAM16	protein_coding	OTTHUMT00000251628.2	G	NM_024535			4405322	-1	no_errors	ENST00000572467	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
C5orf42	65250	genome.wustl.edu	37	5	37176029	37176029	+	Missense_Mutation	SNP	G	G	A	rs141126113		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:37176029G>A	ENST00000508244.1	-	30	6053	c.5960C>T	c.(5959-5961)aCg>aTg	p.T1987M	C5orf42_ENST00000425232.2_Missense_Mutation_p.T1987M|C5orf42_ENST00000274258.7_Missense_Mutation_p.T867M			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1987						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCTGAACTCGTATCTACTTG	0.343																																																	0								ENSG00000197603	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	183.0	196.0	192.0		5960	1.6	0.9	5	dbSNP_134	192	1,8599	1.2+/-3.3	0,1,4299	no	missense	C5orf42	NM_023073.3	81	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	1987/3198	37176029	2,13004	2203	4300	6503	C5orf42	SO:0001583	missense	0			-	HGNC		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.5960C>T	5.37:g.37176029G>A	ENSP00000421690:p.Thr1987Met	Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	43	17.31	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Quino_amine_DH_bsu	p.T1987M	ENST00000508244.1	37	c.5960	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	11.13	1.547316	0.27652	2.27E-4	1.16E-4	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429;ENST00000388739	T;T;T;T	0.24151	1.87;1.87;1.87;1.87	5.77	1.63	0.23807	.	0.168099	0.33670	N	0.004665	T	0.20820	0.0501	L	0.29908	0.895	0.22142	N	0.999339	D;D	0.59357	0.985;0.985	P;P	0.51385	0.668;0.668	T	0.06716	-1.0811	10	0.38643	T	0.18	.	3.6796	0.08305	0.0801:0.1334:0.4069:0.3796	.	1987;867	E9PH94;Q9H799	.;CE042_HUMAN	M	1987;1987;867;1035;867	ENSP00000421690:T1987M;ENSP00000389014:T1987M;ENSP00000274258:T867M;ENSP00000424223:T1035M	ENSP00000274258:T867M	T	-	2	0	C5orf42	37211786	0.312000	0.24545	0.917000	0.36280	0.135000	0.20990	0.387000	0.20718	0.307000	0.22880	0.655000	0.94253	ACG	-	NULL		0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	protein_coding	OTTHUMT00000360806.1	G	NM_023073	rs141126113		37176029	-1	no_errors	ENST00000425232	ensembl	human	known	74_37	missense	SNP	0.702	A
FAM157A	728262	genome.wustl.edu	37	3	197896682	197896682	+	lincRNA	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:197896682G>T	ENST00000437428.2	+	0	903							C9JC47	F157A_HUMAN	family with sequence similarity 157, member A											NS(1)|skin(1)	2						TGCTGTACCAGATTTGCAGTG	0.403																																																	0								ENSG00000236438						203.0	143.0	161.0					3																	197896682		692	1591	2283	FAM157A			0			-	HGNC			3q29	2013-01-30			ENSG00000236438	ENSG00000236438			34079	other	unknown							Standard	NM_001145248		Approved		uc011bup.1	C9JC47			3.37:g.197896682G>T		Somatic	1	281	0.35		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	146	21.51		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000437428.2	37	NULL		3	.	.	.	.	.	.	.	.	.	.	.	0.121	-1.125054	0.01770	.	.	ENSG00000236438	ENST00000431569	.	.	.	0.636	-0.681	0.11342	.	.	.	.	.	T	0.20455	0.0492	N	0.08118	0	0.09310	N	1	D	0.58268	0.982	P	0.53549	0.729	T	0.16512	-1.0400	6	.	.	.	.	.	.	.	.	371	C9JC47	F157A_HUMAN	Y	371	.	.	D	+	1	0	FAM157A	199381079	0.065000	0.20965	0.009000	0.14445	0.013000	0.08279	0.278000	0.18753	-0.198000	0.10333	0.382000	0.24955	GAT	-	-		0.403	FAM157A-001	KNOWN	not_best_in_genome_evidence|mRNA_end_NF|basic	lincRNA	FAM157A	lincRNA	OTTHUMT00000340078.2	G	NM_001145248	-		197896682	+1	no_errors	ENST00000431569	ensembl	human	known	74_37	rna	SNP	0.011	T
NPY2R	4887	genome.wustl.edu	37	4	156135355	156135355	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:156135355C>T	ENST00000329476.3	+	2	753	c.264C>T	c.(262-264)ttC>ttT	p.F88F	NPY2R_ENST00000506608.1_Silent_p.F88F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	88					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CCAACTTTTTCATTGCCAATC	0.473																																																	0								ENSG00000185149						112.0	112.0	112.0					4																	156135355		2203	4300	6503	NPY2R	SO:0001819	synonymous_variant	0			-	HGNC	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.264C>T	4.37:g.156135355C>T		Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY2_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt	p.F88	ENST00000329476.3	37	c.264	CCDS3791.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.473	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY2R	protein_coding	OTTHUMT00000365128.1	C	NM_000910	-		156135355	+1	no_errors	ENST00000329476	ensembl	human	known	74_37	silent	SNP	1.000	T
TBX4	9496	genome.wustl.edu	37	17	59543182	59543182	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:59543182G>A	ENST00000240335.1	+	3	329	c.284G>A	c.(283-285)aGg>aAg	p.R95K	TBX4_ENST00000393853.4_Missense_Mutation_p.R95K|RP11-15K2.2_ENST00000592766.1_RNA	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	95					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCCCCCAGGAGGATGTTCCCC	0.567																																																	0								ENSG00000121075						140.0	123.0	129.0					17																	59543182		2203	4300	6503	TBX4	SO:0001583	missense	0			-	HGNC	AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.284G>A	17.37:g.59543182G>A	ENSP00000240335:p.Arg95Lys	Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	A5PKU7|B2RMT1|B7ZLV3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R95K	ENST00000240335.1	37	c.284	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	G	23.0	4.357403	0.82243	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	D;D	0.89681	-2.55;-2.55	5.26	5.26	0.73747	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.151916	0.56097	D	0.000028	D	0.94535	0.8240	M	0.82923	2.615	0.80722	D	1	D;D	0.59357	0.985;0.985	D;D	0.72625	0.978;0.978	D	0.94482	0.7694	9	.	.	.	.	16.407	0.83677	0.0:0.0:1.0:0.0	.	95;95	A5PKU7;P57082	.;TBX4_HUMAN	K	95	ENSP00000377435:R95K;ENSP00000240335:R95K	.	R	+	2	0	TBX4	56897964	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.406000	0.97321	2.619000	0.88677	0.655000	0.94253	AGG	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.567	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	protein_coding	OTTHUMT00000449649.1	G	NM_018488	-		59543182	+1	no_errors	ENST00000393853	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF615	284370	genome.wustl.edu	37	19	52496272	52496272	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52496272C>T	ENST00000602063.1	-	6	2406	c.2057G>A	c.(2056-2058)gGg>gAg	p.G686E	ZNF615_ENST00000376716.5_Missense_Mutation_p.G686E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G691E|ZNF615_ENST00000594083.1_Missense_Mutation_p.G697E|ZNF615_ENST00000598071.1_Missense_Mutation_p.G697E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	686					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GAAGGCTTTCCCGCAGTCACT	0.423																																																	0								ENSG00000197619						165.0	161.0	163.0					19																	52496272		2203	4300	6503	ZNF615	SO:0001583	missense	0			-	HGNC	AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.2057G>A	19.37:g.52496272C>T	ENSP00000473089:p.Gly686Glu	Somatic	0	101	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	62	11.43	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G697E	ENST00000602063.1	37	c.2090	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	5.027	0.190633	0.09547	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.06933	3.24;3.24	3.14	2.07	0.26955	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23532	0.0569	L	0.56769	1.78	0.24072	N	0.995978	D;B;B;D	0.89917	1.0;0.045;0.045;1.0	D;B;B;D	0.83275	0.996;0.039;0.039;0.996	T	0.05818	-1.0862	9	0.51188	T	0.08	.	12.4018	0.55418	0.0:0.8994:0.0:0.1006	.	691;693;697;686	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	E	686;696;691;640	ENSP00000365906:G686E;ENSP00000375672:G691E	ENSP00000347019:G696E	G	-	2	0	ZNF615	57188084	0.000000	0.05858	0.712000	0.30502	0.235000	0.25334	0.144000	0.16135	0.180000	0.19960	-0.797000	0.03246	GGG	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	protein_coding	OTTHUMT00000462391.1	C	NM_198480	-		52496272	-1	no_errors	ENST00000594083	ensembl	human	known	74_37	missense	SNP	1.000	T
ITIH4	3700	genome.wustl.edu	37	3	52858166	52858166	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:52858166C>T	ENST00000266041.4	-	9	1268				ITIH4_ENST00000434759.3_Intron|ITIH4_ENST00000467462.1_5'Flank|ITIH4_ENST00000485816.1_Intron|ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000346281.5_Intron|ITIH4_ENST00000406595.1_Intron|RP5-966M1.6_ENST00000468472.1_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4						acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCCGCCTCCCCTGTGCAGCA	0.647																																																	0								ENSG00000239799						32.0	35.0	34.0					3																	52858166		2203	4300	6503	ITIH4-AS1	SO:0001627	intron_variant	0			-	HGNC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1171+39G>A	3.37:g.52858166C>T		Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	58	19.44	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000266041.4	37	NULL	CCDS2865.1	3																																																																																			-	-		0.647	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ITIH4-AS1	protein_coding	OTTHUMT00000317715.1	C	NM_002218	-		52858166	+1	no_errors	ENST00000478366	ensembl	human	known	74_37	rna	SNP	0.003	T
MFN1	55669	genome.wustl.edu	37	3	179107852	179107852	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179107852G>T	ENST00000471841.1	+	17	2199	c.2073G>T	c.(2071-2073)ctG>ctT	p.L691L	MFN1_ENST00000280653.7_Silent_p.L580L|MFN1_ENST00000263969.5_Silent_p.L691L	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	691					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAAAACAGCTGGAAGAAGAAA	0.313																																																	0								ENSG00000171109						60.0	64.0	62.0					3																	179107852		2203	4298	6501	MFN1	SO:0001819	synonymous_variant	0			-	HGNC	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2073G>T	3.37:g.179107852G>T		Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.L691	ENST00000471841.1	37	c.2073	CCDS3228.1	3																																																																																			-	pfam_Fzo/mitofusin_HR2		0.313	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	G	NM_017927	-		179107852	+1	no_errors	ENST00000263969	ensembl	human	known	74_37	silent	SNP	1.000	T
ZNF676	163223	genome.wustl.edu	37	19	22362861	22362861	+	Missense_Mutation	SNP	C	C	T	rs201300029	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:22362861C>T	ENST00000397121.2	-	3	1975	c.1658G>A	c.(1657-1659)aGa>aAa	p.R553K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	553					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R553I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTATGAATTCTCTTGTGTCT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000196109						64.0	67.0	66.0					19																	22362861		2121	4254	6375	ZNF676	SO:0001583	missense	0			-	HGNC	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1658G>A	19.37:g.22362861C>T	ENSP00000380310:p.Arg553Lys	Somatic	0	26	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	A8MVX5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R553K	ENST00000397121.2	37	c.1658	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	1.547	-0.540247	0.04053	.	.	ENSG00000196109	ENST00000397121	T	0.18338	2.22	0.819	-1.64	0.08318	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06962	0.0177	N	0.04387	-0.21	0.21675	N	0.999592	B	0.30664	0.289	B	0.28991	0.097	T	0.28933	-1.0028	9	0.30078	T	0.28	.	7.768	0.28991	0.3982:0.6018:0.0:0.0	.	553	Q8N7Q3	ZN676_HUMAN	K	553	ENSP00000380310:R553K	ENSP00000380310:R553K	R	-	2	0	ZNF676	22154701	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.989000	0.03736	-2.950000	0.00293	-2.994000	0.00078	AGA	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	C	NM_001001411	-		22362861	-1	no_errors	ENST00000397121	ensembl	human	known	74_37	missense	SNP	0.885	T
PTPRJ	5795	genome.wustl.edu	37	11	48177363	48177363	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:48177363C>T	ENST00000418331.2	+	20	3592	c.3240C>T	c.(3238-3240)tcC>tcT	p.S1080S		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1080	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ATGATATTTCCCGTGTCAAAC	0.383																																																	0								ENSG00000149177						80.0	74.0	76.0					11																	48177363		2201	4298	6499	PTPRJ	SO:0001819	synonymous_variant	0			-	HGNC	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3240C>T	11.37:g.48177363C>T		Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.S1080	ENST00000418331.2	37	c.3240	CCDS7945.1	11																																																																																			-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.383	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	C		-		48177363	+1	no_errors	ENST00000418331	ensembl	human	known	74_37	silent	SNP	0.999	T
CARD8	22900	genome.wustl.edu	37	19	48733921	48733921	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48733921T>C	ENST00000359009.4	-	6	803	c.491A>G	c.(490-492)cAt>cGt	p.H164R	ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000447740.2_Missense_Mutation_p.H220R|CARD8_ENST00000520153.1_Missense_Mutation_p.H220R|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520015.1_Missense_Mutation_p.H270R|CARD8_ENST00000520753.1_Missense_Mutation_p.H270R|CARD8_ENST00000391898.3_Missense_Mutation_p.H270R|CARD8_ENST00000519940.1_Missense_Mutation_p.H270R|CARD8_ENST00000521613.1_Missense_Mutation_p.H220R			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	164					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		ATTCTTAAAATGGGCAACGAG	0.602																																																	0								ENSG00000105483						109.0	111.0	110.0					19																	48733921		2203	4300	6503	CARD8	SO:0001583	missense	0			-	HGNC	AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.491A>G	19.37:g.48733921T>C	ENSP00000351901:p.His164Arg	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.H270R	ENST00000359009.4	37	c.809		19	.	.	.	.	.	.	.	.	.	.	T	13.52	2.260781	0.39995	.	.	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	2.29	1.26	0.21427	.	.	.	.	.	T	0.49541	0.1563	M	0.75615	2.305	0.27429	N	0.954059	D;D;D;D;D;D;D;D	0.62365	0.991;0.991;0.991;0.991;0.96;0.989;0.989;0.991	D;D;D;D;D;D;D;D	0.78314	0.991;0.987;0.987;0.987;0.923;0.978;0.985;0.991	T	0.32981	-0.9886	9	0.87932	D	0	.	5.8353	0.18602	0.0:0.1469:0.0:0.8531	.	189;270;270;203;270;220;164;164	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	R	220;270;164;270;220;270;220;270	ENSP00000391248:H220R;ENSP00000375767:H270R;ENSP00000351901:H164R;ENSP00000429839:H270R;ENSP00000428736:H220R;ENSP00000430747:H270R;ENSP00000427858:H220R;ENSP00000428883:H270R	ENSP00000351901:H164R	H	-	2	0	CARD8	53425733	0.998000	0.40836	0.258000	0.24420	0.182000	0.23217	1.321000	0.33678	0.319000	0.23209	-0.332000	0.08345	CAT	-	NULL		0.602	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	CARD8	protein_coding		T	NM_014959	-		48733921	-1	no_errors	ENST00000391898	ensembl	human	known	74_37	missense	SNP	0.966	C
HIST1H3B	8358	genome.wustl.edu	37	6	26032186	26032186	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:26032186C>T	ENST00000244661.2	-	1	102	c.103G>A	c.(103-105)Ggc>Agc	p.G35S		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	35					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTTTCACGCCGCCGGTAGCC	0.627																																																	0								ENSG00000124693						59.0	73.0	68.0					6																	26032186		2176	4261	6437	HIST1H3B	SO:0001583	missense	0			-	HGNC	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.103G>A	6.37:g.26032186C>T	ENSP00000244661:p.Gly35Ser	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	28	45.10	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.G35S	ENST00000244661.2	37	c.103	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	14.77	2.635866	0.47049	.	.	ENSG00000124693	ENST00000244661	T	0.48522	0.81	5.19	5.19	0.71726	.	.	.	.	.	T	0.61022	0.2314	.	.	.	0.47698	D	0.999492	.	.	.	.	.	.	T	0.65606	-0.6127	6	0.87932	D	0	.	18.0628	0.89382	0.0:1.0:0.0:0.0	.	.	.	.	S	35	ENSP00000244661:G35S	ENSP00000244661:G35S	G	-	1	0	HIST1H3B	26140165	1.000000	0.71417	1.000000	0.80357	0.059000	0.15707	7.599000	0.82757	2.577000	0.86979	0.561000	0.74099	GGC	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.627	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	protein_coding	OTTHUMT00000040077.1	C	NM_003537	-		26032186	-1	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	SNP	1.000	T
ARF1	375	genome.wustl.edu	37	1	228286670	228286670	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:228286670C>T	ENST00000541182.1	+	0	1764				ARF1_ENST00000540651.1_3'UTR|MIR3620_ENST00000584469.1_RNA|C1orf35_ENST00000472617.1_5'Flank|ARF1_ENST00000272102.5_3'UTR	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cellular copper ion homeostasis (GO:0006878)|COPI coating of Golgi vesicle (GO:0048205)|dendritic spine organization (GO:0097061)|GTP catabolic process (GO:0006184)|long term synaptic depression (GO:0060292)|membrane organization (GO:0061024)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)|regulation of defense response to virus by virus (GO:0050690)|regulation of receptor internalization (GO:0002090)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TGCAAGGGTCCGATTTGCCAT	0.502																																																	0								ENSG00000143761																																			ARF1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	M84326	CCDS1565.1	1q42.13	2014-01-30			ENSG00000143761	ENSG00000143761		"""ADP-ribosylation factors"", ""Endogenous ligands"""	652	protein-coding gene	gene with protein product		103180				1577740	Standard	NM_001658		Approved		uc001hrr.3	P84077	OTTHUMG00000037595	ENST00000541182.1:c.*956C>T	1.37:g.228286670C>T		Somatic	0	94	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	P10947|P32889	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000541182.1	37	NULL	CCDS1565.1	1																																																																																			-	-		0.502	ARF1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF1	protein_coding	OTTHUMT00000091650.1	C	NM_001024227	-		228286670	+1	no_errors	ENST00000477821	ensembl	human	putative	74_37	rna	SNP	0.998	T
SLCO1B1	10599	genome.wustl.edu	37	12	21370151	21370151	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21370151G>A	ENST00000256958.2	+	12	1692	c.1596G>A	c.(1594-1596)agG>agA	p.R532R		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	532					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	CTTGTACAAGGAAATTTTACT	0.378																																																	0								ENSG00000134538						142.0	144.0	144.0					12																	21370151		2203	4300	6503	SLCO1B1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1596G>A	12.37:g.21370151G>A		Somatic	0	95	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	41	18.00	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R532	ENST00000256958.2	37	c.1596	CCDS8685.1	12																																																																																			-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.378	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	protein_coding	OTTHUMT00000402070.1	G	NM_006446	-		21370151	+1	no_errors	ENST00000256958	ensembl	human	known	74_37	silent	SNP	0.076	A
SZT2	23334	genome.wustl.edu	37	1	43870167	43870167	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:43870167G>A	ENST00000562955.1	+	4	444	c.444G>A	c.(442-444)gaG>gaA	p.E148E	SZT2_ENST00000372450.4_Silent_p.E146E|SZT2_ENST00000310739.4_Silent_p.E148E	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	148					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCCAGCCTGAGATCTATGTAA	0.507																																																	0								ENSG00000198198						131.0	113.0	119.0					1																	43870167		2203	4300	6503	SZT2	SO:0001819	synonymous_variant	0			-	HGNC	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.444G>A	1.37:g.43870167G>A		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E148	ENST00000562955.1	37	c.444	CCDS30694.2	1																																																																																			-	NULL		0.507	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	protein_coding	OTTHUMT00000019517.3	G	NM_015284	-		43870167	+1	no_errors	ENST00000562955	ensembl	human	known	74_37	silent	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31294427	31294427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:31294427C>T	ENST00000256552.6	-	28	4623	c.4476G>A	c.(4474-4476)tgG>tgA	p.W1492*	TRPM1_ENST00000397795.2_Nonsense_Mutation_p.W1470*|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Nonsense_Mutation_p.W1509*	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTTGGCATTGCCATTCCGTCG	0.493																																																	0								ENSG00000134160						220.0	199.0	206.0					15																	31294427		1998	4182	6180	TRPM1	SO:0001587	stop_gained	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4476G>A	15.37:g.31294427C>T	ENSP00000256552:p.Trp1492*	Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70		Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom	p.W1509*	ENST00000256552.6	37	c.4527	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	C	43	9.976367	0.99309	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	.	.	.	4.79	4.79	0.61399	.	0.737582	0.12511	N	0.462500	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-5.1598	17.8625	0.88786	0.0:1.0:0.0:0.0	.	.	.	.	X	1470;1509;1492;1470	.	ENSP00000256552:W1492X	W	-	3	0	TRPM1	29081719	1.000000	0.71417	0.110000	0.21437	0.034000	0.12701	5.692000	0.68256	2.194000	0.70268	0.563000	0.77884	TGG	-	NULL		0.493	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	C	NM_002420	-		31294427	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	nonsense	SNP	0.999	T
ZNF710	374655	genome.wustl.edu	37	15	90550017	90550017	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:90550017C>T	ENST00000268154.4	+	1	223				MIR3174_ENST00000583440.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			agatgcagagccctgggctcc	0.463																																																	0								ENSG00000265871																																			MIR3174	SO:0001627	intron_variant	0			-	HGNC	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.-29+5171C>T	15.37:g.90550017C>T		Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A0AVS3|Q6ZMK9|Q8NDU0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000268154.4	37	NULL	CCDS10358.1	15																																																																																			-	-		0.463	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3174	protein_coding	OTTHUMT00000313423.1	C	NM_198526	-		90550017	+1	no_errors	ENST00000583440	ensembl	human	known	74_37	rna	SNP	0.000	T
ARFGEF2	10564	genome.wustl.edu	37	20	47614645	47614645	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:47614645C>T	ENST00000371917.4	+	24	3221				ARFGEF2_ENST00000493140.1_3'UTR	NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)						endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			gatacaccctcctcggcctcc	0.453																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0								ENSG00000124198																																			ARFGEF2	SO:0001627	intron_variant	0			-	HGNC	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.3222-85C>T	20.37:g.47614645C>T		Somatic	0	17	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	Q5TFT9|Q9NTS1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000371917.4	37	NULL	CCDS13411.1	20																																																																																			-	-		0.453	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	protein_coding	OTTHUMT00000079627.1	C	NM_006420	-		47614645	+1	no_errors	ENST00000493140	ensembl	human	known	74_37	rna	SNP	0.004	T
MYO1F	4542	genome.wustl.edu	37	19	8587306	8587306	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:8587306C>G	ENST00000338257.8	-	27	3442	c.3175G>C	c.(3175-3177)Gag>Cag	p.E1059Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	1059	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				defense response to Gram-positive bacterium (GO:0050830)|negative regulation of cell adhesion (GO:0007162)|neutrophil degranulation (GO:0043312)|positive regulation of cell migration (GO:0030335)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of innate immune response (GO:0045088)	cortical actin cytoskeleton (GO:0030864)|filamentous actin (GO:0031941)|unconventional myosin complex (GO:0016461)	actin binding (GO:0003779)|ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AAGCTCAGCTCGTCCACATCT	0.607																																																	0								ENSG00000142347						68.0	71.0	70.0					19																	8587306		2124	4218	6342	MYO1F	SO:0001583	missense	0			-	HGNC	X98411	CCDS42494.1	19p13.3-p13.2	2011-09-27			ENSG00000142347	ENSG00000142347		"""Myosins / Myosin superfamily : Class I"""	7600	protein-coding gene	gene with protein product		601480				9119401, 8884266	Standard	NM_012335		Approved		uc002mkg.3	O00160	OTTHUMG00000156005	ENST00000338257.8:c.3175G>C	19.37:g.8587306C>G	ENSP00000344871:p.Glu1059Gln	Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	Q8WWN7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_SH3_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_SH3_domain,prints_Myosin_head_motor_dom,prints_SH3_domain	p.E1059Q	ENST00000338257.8	37	c.3175	CCDS42494.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491264	0.84962	.	.	ENSG00000142347	ENST00000338257	T	0.64991	-0.13	5.5	5.5	0.81552	Src homology-3 domain (5);	.	.	.	.	T	0.81479	0.4831	M	0.89030	3	0.58432	D	0.999995	D	0.63880	0.993	D	0.67725	0.953	D	0.84641	0.0695	9	0.66056	D	0.02	.	15.5735	0.76356	0.0:0.8621:0.1379:0.0	.	1059	O00160	MYO1F_HUMAN	Q	1059	ENSP00000344871:E1059Q	ENSP00000344871:E1059Q	E	-	1	0	MYO1F	8493306	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.767000	0.85331	2.572000	0.86782	0.650000	0.86243	GAG	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain		0.607	MYO1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1F	protein_coding	OTTHUMT00000342716.2	C		-		8587306	-1	no_errors	ENST00000338257	ensembl	human	known	74_37	missense	SNP	1.000	G
NEB	4703	genome.wustl.edu	37	2	152477457	152477457	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:152477457C>T	ENST00000172853.10	-	68	9954	c.9807G>A	c.(9805-9807)aaG>aaA	p.K3269K	NEB_ENST00000427231.2_Silent_p.K3512K|NEB_ENST00000603639.1_Silent_p.K3512K|NEB_ENST00000409198.1_Silent_p.K3269K|NEB_ENST00000397345.3_Silent_p.K3512K|NEB_ENST00000604864.1_Silent_p.K3512K			P20929	NEBU_HUMAN	nebulin	3269					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCCGAGAGGCCTTGGCAGCCA	0.483																																																	0								ENSG00000183091						80.0	81.0	81.0					2																	152477457		1963	4147	6110	NEB	SO:0001819	synonymous_variant	0			-	HGNC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9807G>A	2.37:g.152477457C>T		Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	24	29.41	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.K3512	ENST00000172853.10	37	c.10536		2																																																																																			-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152477457	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	silent	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179604785	179604785	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:179604785C>T	ENST00000591111.1	-	46	12448	c.12224G>A	c.(12223-12225)aGa>aAa	p.R4075K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.R4029K|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R4392K|TTN_ENST00000359218.5_Missense_Mutation_p.R4154K|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R4221K			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTTTAATCTCTGCTCTTC	0.468																																																	0								ENSG00000155657						52.0	52.0	52.0					2																	179604785		1844	4092	5936	TTN	SO:0001583	missense	0			-	HGNC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12224G>A	2.37:g.179604785C>T	ENSP00000465570:p.Arg4075Lys	Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R4221K	ENST00000591111.1	37	c.12662		2	.	.	.	.	.	.	.	.	.	.	C	4.645	0.119893	0.08881	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.60171	0.28;0.22;0.21	5.7	-1.68	0.08212	.	.	.	.	.	T	0.40886	0.1135	N	0.19112	0.55	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38972	-0.9636	9	0.87932	D	0	.	11.798	0.52110	0.0:0.2711:0.0:0.7289	.	4029;4154;4221	D3DPF9;E7EQE6;E7ET18	.;.;.	K	4029;4221;4154;4029	ENSP00000434586:R4029K;ENSP00000340554:R4221K;ENSP00000352154:R4154K	ENSP00000340554:R4221K	R	-	2	0	TTN	179313030	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.877000	0.04197	-0.143000	0.11334	-0.136000	0.14681	AGA	-	superfamily_RNaseH-like_dom		0.468	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	C	NM_133378	-		179604785	-1	no_errors	ENST00000342175	ensembl	human	known	74_37	missense	SNP	0.000	T
ACTB	60	genome.wustl.edu	37	7	5567440	5567440	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:5567440C>A	ENST00000331789.5	-	6	1258	c.1067G>T	c.(1066-1068)tGg>tTg	p.W356L	ACTB_ENST00000464611.1_5'UTR|AC006483.1_ENST00000579427.1_RNA	NM_001101.3	NP_001092.1	P63261	ACTG_HUMAN	actin, beta	356					adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|platelet aggregation (GO:0070527)|retina homeostasis (GO:0001895)|sarcomere organization (GO:0045214)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|membrane (GO:0016020)|myofibril (GO:0030016)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CTTGCTGATCCACATCTGCTG	0.572																																																	0								ENSG00000075624						102.0	105.0	104.0					7																	5567440		2203	4298	6501	ACTB	SO:0001583	missense	0			-	HGNC	M28424	CCDS5341.1	7p22	2014-09-17			ENSG00000075624	ENSG00000075624			132	protein-coding gene	gene with protein product		102630				1505215	Standard	NM_001101		Approved		uc003sot.4	P60709	OTTHUMG00000023268	ENST00000331789.5:c.1067G>T	7.37:g.5567440C>A	ENSP00000349960:p.Trp356Leu	Somatic	0	147	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	60	46.96	A8K7C2|P02571|P14104|P99022|Q5U032|Q96E67	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.W356L	ENST00000331789.5	37	c.1067	CCDS5341.1	7	.	.	.	.	.	.	.	.	.	.	C	19.43	3.825541	0.71143	.	.	ENSG00000075624	ENST00000331789;ENST00000445914;ENST00000400179;ENST00000320713	D	0.95342	-3.68	5.55	5.55	0.83447	Actin, conserved site (1);	0.000000	0.56097	D	0.000030	D	0.98560	0.9519	H	0.98664	4.295	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99655	1.0992	10	0.87932	D	0	.	18.5519	0.91068	0.0:1.0:0.0:0.0	.	356	P60709	ACTB_HUMAN	L	356;332;328;275	ENSP00000349960:W356L	ENSP00000440549:W275L	W	-	2	0	ACTB	5533966	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.533000	0.81994	2.617000	0.88574	0.650000	0.86243	TGG	-	pfam_Actin-related,smart_Actin-related		0.572	ACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTB	protein_coding	OTTHUMT00000059589.4	C	NM_001101	-		5567440	-1	no_errors	ENST00000331789	ensembl	human	known	74_37	missense	SNP	1.000	A
HPGDS	27306	genome.wustl.edu	37	4	95229814	95229814	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:95229814G>A	ENST00000295256.5	-	4	397	c.307C>T	c.(307-309)Cct>Tct	p.P103S	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	103	GST C-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCTGCCCAAGGAAAACATGAC	0.398																																					Colon(86;1802 1843 17863 46794)												0								ENSG00000163106						168.0	155.0	159.0					4																	95229814		2203	4300	6503	HPGDS	SO:0001583	missense	0			-	HGNC	D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.307C>T	4.37:g.95229814G>A	ENSP00000295256:p.Pro103Ser	Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q6FHT9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.P103S	ENST00000295256.5	37	c.307	CCDS3640.1	4	.	.	.	.	.	.	.	.	.	.	G	18.01	3.527004	0.64860	.	.	ENSG00000163106	ENST00000295256	T	0.02236	4.38	5.43	5.43	0.79202	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.669475	0.14236	N	0.332412	T	0.09598	0.0236	L	0.50333	1.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.85130	0.997	T	0.44283	-0.9338	10	0.22706	T	0.39	.	16.7289	0.85430	0.0:0.0:1.0:0.0	.	103	O60760	HPGDS_HUMAN	S	103	ENSP00000295256:P103S	ENSP00000295256:P103S	P	-	1	0	HPGDS	95448837	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	6.233000	0.72320	2.538000	0.85594	0.561000	0.74099	CCT	-	superfamily_Glutathione-S-Trfase_C-like		0.398	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	protein_coding	OTTHUMT00000253587.1	G	NM_014485	-		95229814	-1	no_errors	ENST00000295256	ensembl	human	known	74_37	missense	SNP	1.000	A
ZBTB22	9278	genome.wustl.edu	37	6	33284329	33284329	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:33284329G>A	ENST00000431845.2	-	2	516	c.365C>T	c.(364-366)gCt>gTt	p.A122V	TAPBP_ENST00000426633.2_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000456592.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.A122V|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	122					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GACAATGTCAGCAGCAGCCAT	0.572																																																	0								ENSG00000236104						100.0	102.0	101.0					6																	33284329		2203	4300	6503	ZBTB22	SO:0001583	missense	0			-	HGNC	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.365C>T	6.37:g.33284329G>A	ENSP00000407545:p.Ala122Val	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.A122V	ENST00000431845.2	37	c.365	CCDS4775.1	6	.	.	.	.	.	.	.	.	.	.	G	14.14	2.447758	0.43429	.	.	ENSG00000236104	ENST00000418724;ENST00000431845;ENST00000441117	T;T;T	0.69040	-0.37;-0.37;-0.37	4.44	3.57	0.40892	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.33496	N	0.004852	T	0.34832	0.0911	L	0.41906	1.305	0.39386	D	0.966332	B	0.29909	0.261	B	0.26517	0.07	T	0.31971	-0.9924	10	0.44086	T	0.13	.	5.4049	0.16316	0.1028:0.0:0.6988:0.1984	.	122	O15209	ZBT22_HUMAN	V	122	ENSP00000404403:A122V;ENSP00000407545:A122V;ENSP00000413172:A122V	ENSP00000404403:A122V	A	-	2	0	ZBTB22	33392307	0.957000	0.32711	1.000000	0.80357	0.998000	0.95712	2.694000	0.47035	1.084000	0.41184	0.551000	0.68910	GCT	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.572	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB22	protein_coding	OTTHUMT00000076183.2	G		-		33284329	-1	no_errors	ENST00000418724	ensembl	human	known	74_37	missense	SNP	1.000	A
MX1	4599	genome.wustl.edu	37	21	42813638	42813638	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:42813638C>T	ENST00000398600.2	+	12	1755				MX1_ENST00000455164.2_Intron|MX1_ENST00000288383.6_Intron|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000398598.3_Intron	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	MX dynamin-like GTPase 1						apoptotic process (GO:0006915)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|response to type I interferon (GO:0034340)|response to virus (GO:0009615)|signal transduction (GO:0007165)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				ACATCTGGCTCGCAGGAATCT	0.557																																																	0								ENSG00000228318						133.0	127.0	129.0					21																	42813638		2203	4300	6503	AP001610.5	SO:0001627	intron_variant	0			-	Clone_based_vega_gene		CCDS13673.1, CCDS74796.1	21q22.3	2014-07-15	2014-07-15		ENSG00000157601	ENSG00000157601			7532	protein-coding gene	gene with protein product	"""interferon-inducible protein p78"""	147150	"""myxovirus (influenza) resistance 1, homolog of murine (interferon-inducible protein p78)"", ""myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)"""			17570575	Standard	XM_005260979		Approved	IFI-78K, MxA	uc010goq.3	P20591	OTTHUMG00000086755	ENST00000398600.2:c.731-5C>T	21.37:g.42813638C>T		Somatic	0	27	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	B2RDA5|B3KU10|C9IYV7|C9J8D6|C9JN19|C9JN88|C9JUL1|C9JZS6|D3DSI8|Q86YP5|Q96CI3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000398600.2	37	NULL	CCDS13673.1	21																																																																																			-	-		0.557	MX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000228318	protein_coding	OTTHUMT00000195161.2	C		-		42813638	-1	no_errors	ENST00000411427	ensembl	human	known	74_37	rna	SNP	0.000	T
MYO18B	84700	genome.wustl.edu	37	22	26291269	26291269	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:26291269G>A	ENST00000407587.2	+	28	4840				CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000609809.1_RNA|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000609820.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000453457.3_RNA|CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000609570.1_RNA|CTA-125H2.2_ENST00000608257.1_RNA|CTA-125H2.2_ENST00000609823.1_RNA|CTA-125H2.2_ENST00000608507.1_RNA|CTA-125H2.2_ENST00000608921.1_RNA|CTA-125H2.2_ENST00000609275.1_RNA|CTA-125H2.2_ENST00000608115.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|CTA-125H2.2_ENST00000596813.1_RNA|CTA-125H2.2_ENST00000593715.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000607895.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000609889.1_RNA|MYO18B_ENST00000335473.7_Intron|CTA-125H2.2_ENST00000609157.1_RNA|CTA-125H2.2_ENST00000597614.2_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000536101.1_Intron			Q8IUG5	MY18B_HUMAN	myosin XVIIIB							cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGATAGTCTGGGCCACAGAAG	0.552																																																	0								ENSG00000231933						22.0	27.0	25.0					22																	26291269		2055	4188	6243	CTA-125H2.2	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.4671+22G>A	22.37:g.26291269G>A		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000407587.2	37	NULL		22																																																																																			-	-		0.552	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	ENSG00000231933	protein_coding	OTTHUMT00000400691.1	G	NM_032608	-		26291269	-1	no_errors	ENST00000593715	ensembl	human	known	74_37	rna	SNP	0.016	A
HCLS1	3059	genome.wustl.edu	37	3	121356022	121356022	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:121356022C>T	ENST00000314583.3	-	7	627	c.536G>A	c.(535-537)gGa>gAa	p.G179E	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Intron	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	179					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CTCCGTCTCTCCCTTGTAGTC	0.537																																																	0								ENSG00000180353						177.0	151.0	160.0					3																	121356022		2203	4300	6503	HCLS1	SO:0001583	missense	0			-	HGNC		CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.536G>A	3.37:g.121356022C>T	ENSP00000320176:p.Gly179Glu	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	26	40.91	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.G179E	ENST00000314583.3	37	c.536	CCDS3003.1	3	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118497	0.56505	.	.	ENSG00000180353	ENST00000314583	T	0.15718	2.4	5.03	5.03	0.67393	.	0.115902	0.64402	D	0.000006	T	0.10465	0.0256	N	0.17764	0.52	0.80722	D	1	P	0.37207	0.587	B	0.38225	0.268	T	0.21484	-1.0244	10	0.13470	T	0.59	-14.1073	9.4787	0.38887	0.0:0.9027:0.0:0.0972	.	179	P14317	HCLS1_HUMAN	E	179	ENSP00000320176:G179E	ENSP00000320176:G179E	G	-	2	0	HCLS1	122838712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.515000	0.45512	2.328000	0.79073	0.563000	0.77884	GGA	-	pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin		0.537	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCLS1	protein_coding	OTTHUMT00000355144.1	C	NM_005335	-		121356022	-1	no_errors	ENST00000314583	ensembl	human	known	74_37	missense	SNP	1.000	T
MFN1	55669	genome.wustl.edu	37	3	179107859	179107859	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179107859G>T	ENST00000471841.1	+	17	2206	c.2080G>T	c.(2080-2082)Gaa>Taa	p.E694*	MFN1_ENST00000280653.7_Nonsense_Mutation_p.E583*|MFN1_ENST00000263969.5_Nonsense_Mutation_p.E694*	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	694					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			GCTGGAAGAAGAAATTGCTAG	0.313																																																	0								ENSG00000171109						60.0	63.0	62.0					3																	179107859		2203	4298	6501	MFN1	SO:0001587	stop_gained	0			-	HGNC	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2080G>T	3.37:g.179107859G>T	ENSP00000420617:p.Glu694*	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.E694*	ENST00000471841.1	37	c.2080	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.719724	0.96839	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	.	.	.	5.97	5.97	0.96955	.	0.230179	0.52532	D	0.000072	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.8679	15.175	0.72903	0.0:0.0:0.859:0.141	.	.	.	.	X	694;583;694;446	.	ENSP00000263969:E694X	E	+	1	0	MFN1	180590553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.152000	0.77419	2.828000	0.97474	0.655000	0.94253	GAA	-	pfam_Fzo/mitofusin_HR2		0.313	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	G	NM_017927	-		179107859	+1	no_errors	ENST00000263969	ensembl	human	known	74_37	nonsense	SNP	1.000	T
CHAD	1101	genome.wustl.edu	37	17	48545985	48545985	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:48545985G>A	ENST00000508540.1	-	1	342	c.190C>T	c.(190-192)Ccg>Tcg	p.P64S	ACSF2_ENST00000300441.4_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.P64S|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000506085.1_Intron|ACSF2_ENST00000427954.2_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	64					bone development (GO:0060348)|cartilage condensation (GO:0001502)|negative regulation of bone trabecula formation (GO:1900155)	proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			GCCAGCACCGGGAAGTTGTTG	0.627																																																	0								ENSG00000136457						94.0	79.0	84.0					17																	48545985		2203	4300	6503	CHAD	SO:0001583	missense	0			-	HGNC	U96767	CCDS11568.1	17q21.33	2008-02-05			ENSG00000136457	ENSG00000136457		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1909	protein-coding gene	gene with protein product	"""chondroadherin proteoglycan"""	602178				9344663	Standard	NM_001267		Approved	SLRR4A	uc010dbr.3	O15335	OTTHUMG00000162129	ENST00000508540.1:c.190C>T	17.37:g.48545985G>A	ENSP00000423812:p.Pro64Ser	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A8K812|Q6GTU0|Q96RJ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.P64S	ENST00000508540.1	37	c.190	CCDS11568.1	17	.	.	.	.	.	.	.	.	.	.	G	11.48	1.652225	0.29336	.	.	ENSG00000136457	ENST00000508540;ENST00000258969	T;T	0.03801	3.8;3.8	4.31	4.31	0.51392	.	0.112602	0.64402	D	0.000010	T	0.01765	0.0056	N	0.00859	-1.14	0.46149	D	0.99889	B	0.30179	0.271	B	0.28305	0.088	T	0.52011	-0.8632	10	0.06757	T	0.87	.	16.9843	0.86336	0.0:0.0:1.0:0.0	.	64	O15335	CHAD_HUMAN	S	64	ENSP00000423812:P64S;ENSP00000258969:P64S	ENSP00000258969:P64S	P	-	1	0	CHAD	45900984	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	7.702000	0.84576	2.232000	0.73038	0.462000	0.41574	CCG	-	NULL		0.627	CHAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHAD	protein_coding	OTTHUMT00000367447.3	G	NM_001267	-		48545985	-1	no_errors	ENST00000258969	ensembl	human	known	74_37	missense	SNP	1.000	A
ACTRT3	84517	genome.wustl.edu	37	3	169487279	169487279	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:169487279G>A	ENST00000330368.2	-	1	404	c.30C>T	c.(28-30)atC>atT	p.I10I	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	10						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											AGCCGTTGTCGATCACCACCG	0.682																																																	0								ENSG00000184378						25.0	32.0	30.0					3																	169487279		2160	4249	6409	ACTRT3	SO:0001819	synonymous_variant	0			-	HGNC	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.30C>T	3.37:g.169487279G>A		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	Q96IS0|Q96NJ0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-related,smart_Actin-related,prints_Actin-related	p.I10	ENST00000330368.2	37	c.30	CCDS3206.1	3																																																																																			-	pfam_Actin-related,smart_Actin-related		0.682	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTRT3	protein_coding	OTTHUMT00000467797.1	G	NM_032487	-		169487279	-1	no_errors	ENST00000330368	ensembl	human	known	74_37	silent	SNP	1.000	A
GPR152	390212	genome.wustl.edu	37	11	67219867	67219867	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67219867A>G	ENST00000312457.2	-	1	333	c.329T>C	c.(328-330)cTa>cCa	p.L110P	CABP4_ENST00000438189.2_5'Flank|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CACGCCCCATAGGAAGTAGTA	0.662																																					Pancreas(102;800 1581 2723 7382 33622)												0								ENSG00000175514						21.0	22.0	22.0					11																	67219867		2199	4291	6490	GPR152	SO:0001583	missense	0			-	HGNC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032	ENST00000312457.2:c.329T>C	11.37:g.67219867A>G	ENSP00000310255:p.Leu110Pro	Somatic	0	118	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	77	14.44	Q0VD88|Q86SM0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L110P	ENST00000312457.2	37	c.329	CCDS8165.1	11	.	.	.	.	.	.	.	.	.	.	A	16.80	3.224287	0.58668	.	.	ENSG00000175514	ENST00000312457	T	0.47177	0.85	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31709	N	0.007191	T	0.60248	0.2254	L	0.56199	1.76	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	T	0.63152	-0.6701	10	0.87932	D	0	.	8.7542	0.34635	0.8087:0.1913:0.0:0.0	.	110	Q8TDT2	GP152_HUMAN	P	110	ENSP00000310255:L110P	ENSP00000310255:L110P	L	-	2	0	GPR152	66976443	0.826000	0.29277	1.000000	0.80357	0.968000	0.65278	2.774000	0.47694	2.055000	0.61198	0.459000	0.35465	CTA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.662	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR152	protein_coding	OTTHUMT00000397623.1	A		-		67219867	-1	no_errors	ENST00000312457	ensembl	human	known	74_37	missense	SNP	1.000	G
RYR2	6262	genome.wustl.edu	37	1	237948054	237948054	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:237948054G>A	ENST00000366574.2	+	90	13359	c.13042G>A	c.(13042-13044)Gag>Aag	p.E4348K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4332K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E4354K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4348					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)			AGATGGGGAGGAGGGAGAGAG	0.542																																																	0								ENSG00000198626						57.0	58.0	58.0					1																	237948054		1924	4122	6046	RYR2	SO:0001583	missense	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.13042G>A	1.37:g.237948054G>A	ENSP00000355533:p.Glu4348Lys	Somatic	0	35	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	Q15411|Q546N8|Q5T3P2	Missense_Mutation	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.E4354K	ENST00000366574.2	37	c.13060	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645545	0.47258	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93659	-3.26;-3.26;-3.26	5.32	3.42	0.39159	Ryanodine Receptor TM 4-6 (1);	0.261120	0.29884	N	0.010946	D	0.90099	0.6907	L	0.34521	1.04	0.58432	D	0.999999	P;B	0.46512	0.879;0.001	P;B	0.49477	0.612;0.005	D	0.85586	0.1243	10	0.23302	T	0.38	-7.6804	9.3727	0.38264	0.0722:0.2736:0.6542:0.0	.	1322;4348	B4DGV4;Q92736	.;RYR2_HUMAN	K	4348;4354;4332;1322	ENSP00000355533:E4348K;ENSP00000353174:E4354K;ENSP00000443798:E4332K	ENSP00000353174:E4354K	E	+	1	0	RYR2	236014677	1.000000	0.71417	0.496000	0.27539	0.735000	0.41995	6.578000	0.74032	0.786000	0.33708	0.650000	0.86243	GAG	-	pfam_Ryanrecept_TM4-6		0.542	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237948054	+1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	0.569	A
PCDHGC5	56097	genome.wustl.edu	37	5	140869979	140869979	+	Missense_Mutation	SNP	C	C	T	rs2233605		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140869979C>T	ENST00000252087.1	+	1	1172	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATCTCTCCGGACCTGCCA	0.532																																																	0								ENSG00000240764						121.0	125.0	124.0					5																	140869979		2203	4300	6503	PCDHGC5	SO:0001583	missense	0			-	HGNC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1172C>T	5.37:g.140869979C>T	ENSP00000252087:p.Pro391Leu	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	Q9Y5C2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P391L	ENST00000252087.1	37	c.1172	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503037	0.44558	.	.	ENSG00000240764	ENST00000252087	T	0.01705	4.68	5.56	3.79	0.43588	Cadherin (4);Cadherin-like (1);	0.111452	0.41001	D	0.000961	T	0.07593	0.0191	M	0.77406	2.37	0.35230	D	0.776792	D;D	0.76494	0.999;0.991	D;P	0.65684	0.937;0.88	T	0.14504	-1.0470	10	0.44086	T	0.13	.	7.9797	0.30177	0.1304:0.7283:0.0:0.1412	.	391;391	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	L	391	ENSP00000252087:P391L	ENSP00000252087:P391L	P	+	2	0	PCDHGC5	140850163	0.003000	0.15002	0.621000	0.29145	0.972000	0.66771	0.755000	0.26405	0.908000	0.36671	0.655000	0.94253	CCG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.532	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	protein_coding	OTTHUMT00000251819.1	C	NM_018929	-		140869979	+1	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	SNP	0.510	T
ZIC4	84107	genome.wustl.edu	37	3	147105490	147105490	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:147105490G>A	ENST00000383075.3	-	0	2673				ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_3'UTR|ZIC4_ENST00000525172.2_3'UTR|ZIC4-AS1_ENST00000462168.1_RNA	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4							nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CAGGCCTAAGGGTACCACACA	0.502																																																	0								ENSG00000174963																																			ZIC4	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF332509	CCDS43160.1, CCDS54652.1, CCDS54653.1, CCDS58857.1	3q24	2013-01-08	2003-02-21		ENSG00000174963	ENSG00000174963		"""Zinc fingers, C2H2-type"""	20393	protein-coding gene	gene with protein product		608948	"""zinc finger protein of the cerebellum 4"""				Standard	NM_001168378		Approved		uc011bno.2	Q8N9L1	OTTHUMG00000037281	ENST00000383075.3:c.*1156C>T	3.37:g.147105490G>A		Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	36	40.00	A0AVA2|B2RMQ8|B4DF89|B7Z2L2|C9J7D5|J3KQG1|Q4G157|Q9BZ94	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000383075.3	37	NULL	CCDS43160.1	3																																																																																			-	-		0.502	ZIC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC4	protein_coding	OTTHUMT00000355504.1	G		-		147105490	-1	no_errors	ENST00000472749	ensembl	human	known	74_37	rna	SNP	0.039	A
ACP5	54	genome.wustl.edu	37	19	11687292	11687292	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:11687292G>A	ENST00000592828.1	-	6	903	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ACP5_ENST00000412435.2_Silent_p.F167F|ACP5_ENST00000218758.5_Silent_p.F167F|ACP5_ENST00000433365.2_Silent_p.F167F|ACP5_ENST00000590420.1_Intron	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	167					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GCTGGCTGAGGAAGTCATCTG	0.582																																																	0								ENSG00000102575						64.0	64.0	64.0					19																	11687292		2203	4300	6503	ACP5	SO:0001819	synonymous_variant	0			-	HGNC	X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.501C>T	19.37:g.11687292G>A		Somatic	0	120	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	35	28.57	A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PEstase_dom	p.F167	ENST00000592828.1	37	c.501	CCDS12265.1	19																																																																																			-	pfam_PEstase_dom		0.582	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	protein_coding	OTTHUMT00000458881.1	G		-		11687292	-1	no_errors	ENST00000218758	ensembl	human	known	74_37	silent	SNP	0.919	A
DENND4B	9909	genome.wustl.edu	37	1	153914693	153914693	+	Silent	SNP	G	G	A	rs538600672	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153914693G>A	ENST00000361217.4	-	5	1198	c.780C>T	c.(778-780)acC>acT	p.T260T		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	260	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TGAGCACAAAGGTGGAGAAGA	0.647																																																	0								ENSG00000198837						73.0	83.0	80.0					1																	153914693		2087	4206	6293	DENND4B	SO:0001819	synonymous_variant	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.780C>T	1.37:g.153914693G>A		Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q5T4K0	Silent	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	p.T260	ENST00000361217.4	37	c.780	CCDS44228.1	1																																																																																			-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.647	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	G	XM_375806	-		153914693	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	silent	SNP	1.000	A
SPAG16	79582	genome.wustl.edu	37	2	214161811	214161811	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:214161811G>A	ENST00000331683.5	+	3	278				SPAG16_ENST00000374309.3_Intron|SPAG16_ENST00000272898.7_Intron|SPAG16_ENST00000432529.2_Intron|SPAG16_ENST00000414961.2_Intron|SPAG16_ENST00000447990.1_Intron|SPAG16_ENST00000413312.1_Intron	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		ACATTTACAAGGAAGTCAGAA	0.299																																																	0								ENSG00000144451																																			SPAG16	SO:0001627	intron_variant	0			-	HGNC	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.184-175G>A	2.37:g.214161811G>A		Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	26.47	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.K83	ENST00000331683.5	37	c.249	CCDS2396.1	2																																																																																			-	NULL		0.299	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	protein_coding	OTTHUMT00000256601.2	G	NM_024532	-		214161811	+1	no_errors	ENST00000420497	ensembl	human	known	74_37	silent	SNP	0.014	A
CARNS1	57571	genome.wustl.edu	37	11	67191590	67191590	+	Missense_Mutation	SNP	G	G	A	rs371868488		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67191590G>A	ENST00000307823.3	+	9	2454	c.2002G>A	c.(2002-2004)Ggg>Agg	p.G668R	CARNS1_ENST00000531040.1_Missense_Mutation_p.G765R|CARNS1_ENST00000423745.2_Missense_Mutation_p.G668R|CARNS1_ENST00000445895.2_Missense_Mutation_p.G791R	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	668	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						CCTGGGCTGCGGGTTGCTCGA	0.647																																																	0								ENSG00000172508	G	ARG/GLY,ARG/GLY	0,4216		0,0,2108	39.0	43.0	42.0		2371,2002	5.2	1.0	11		42	1,8443		0,1,4221	no	missense,missense	CARNS1	NM_001166222.1,NM_020811.1	125,125	0,1,6329	AA,AG,GG		0.0118,0.0,0.0079	probably-damaging,probably-damaging	791/951,668/828	67191590	1,12659	2108	4222	6330	CARNS1	SO:0001583	missense	0			-	HGNC		CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.2002G>A	11.37:g.67191590G>A	ENSP00000308268:p.Gly668Arg	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	13	43.48	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_PreATP-grasp_dom,superfamily_TIL_dom,pfscan_ATP-grasp	p.G791R	ENST00000307823.3	37	c.2371	CCDS44658.1	11	.	.	.	.	.	.	.	.	.	.	G	19.69	3.873847	0.72180	0.0	1.18E-4	ENSG00000172508	ENST00000531040;ENST00000307823;ENST00000542831;ENST00000423745;ENST00000445895	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	5.25	5.25	0.73442	ATP-grasp fold (1);ATP-grasp fold, DUF201-type (1);ATP-grasp fold, subdomain 2 (1);	0.095175	0.43919	D	0.000519	D	0.99217	0.9728	M	0.87547	2.89	0.50171	D	0.999856	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99478	1.0947	10	0.87932	D	0	-35.718	17.6161	0.88068	0.0:0.0:1.0:0.0	.	668;807	A5YM72;A5YM72-3	CRNS1_HUMAN;.	R	765;668;765;668;791	ENSP00000431670:G765R;ENSP00000308268:G668R;ENSP00000401519:G668R;ENSP00000389009:G791R	ENSP00000308268:G668R	G	+	1	0	CARNS1	66948166	1.000000	0.71417	0.997000	0.53966	0.780000	0.44128	5.231000	0.65327	2.467000	0.83353	0.549000	0.68633	GGG	-	pfscan_ATP-grasp		0.647	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	protein_coding	OTTHUMT00000395501.1	G	NM_020811	-		67191590	+1	no_errors	ENST00000445895	ensembl	human	known	74_37	missense	SNP	0.998	A
PEX5L	51555	genome.wustl.edu	37	3	179533684	179533684	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179533684C>T	ENST00000467460.1	-	10	1378	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	PEX5L_ENST00000263962.8_Missense_Mutation_p.E348K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E242K|PEX5L_ENST00000465751.1_Missense_Mutation_p.E326K|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000392649.3_Missense_Mutation_p.E242K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E291K|PEX5L_ENST00000468741.1_Missense_Mutation_p.E158K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E307K|PEX5L_ENST00000485199.1_Missense_Mutation_p.E315K	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	350					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ATTGCTGCTTCCATGAACAGG	0.493																																																	0								ENSG00000114757						131.0	121.0	124.0					3																	179533684		2203	4300	6503	PEX5L	SO:0001583	missense	0			-	HGNC	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1048G>A	3.37:g.179533684C>T	ENSP00000419975:p.Glu350Lys	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E350K	ENST00000467460.1	37	c.1048	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.548016	0.96488	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	D;D;D;D;D;D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74;-1.74	5.54	5.54	0.83059	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	M	0.82056	2.57	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.998;0.998;0.999;0.993;0.986;0.984	D	0.92309	0.5856	10	0.87932	D	0	-23.5828	19.8585	0.96775	0.0:1.0:0.0:0.0	.	291;326;242;348;315;350	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	K	350;348;315;348;242;158;307;238;291;242;326	ENSP00000419975:E350K;ENSP00000263962:E348K;ENSP00000418440:E315K;ENSP00000376420:E242K;ENSP00000418665:E158K;ENSP00000420555:E307K;ENSP00000418054:E291K;ENSP00000417270:E242K;ENSP00000419348:E326K	ENSP00000263962:E348K	E	-	1	0	PEX5L	181016378	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.445000	0.80570	2.760000	0.94817	0.655000	0.94253	GAA	-	pfscan_TPR-contain_dom		0.493	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	protein_coding	OTTHUMT00000348577.1	C	NM_016559	-		179533684	-1	no_errors	ENST00000467460	ensembl	human	known	74_37	missense	SNP	1.000	T
FBXO9	26268	genome.wustl.edu	37	6	52957542	52957542	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:52957542C>T	ENST00000244426.6	+	8	985	c.813C>T	c.(811-813)atC>atT	p.I271I	FBXO9_ENST00000370939.3_Silent_p.I227I|FBXO9_ENST00000323557.7_Silent_p.I261I|RN7SL244P_ENST00000493405.2_RNA	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	271					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					GCGTGTATATCAGTAAAACCA	0.328																																																	0								ENSG00000112146						65.0	57.0	60.0					6																	52957542		1804	4070	5874	FBXO9	SO:0001819	synonymous_variant	0			-	HGNC	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.813C>T	6.37:g.52957542C>T		Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.I271	ENST00000244426.6	37	c.813	CCDS55023.1	6																																																																																			-	superfamily_F-box_dom		0.328	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	protein_coding	OTTHUMT00000040950.3	C		-		52957542	+1	no_errors	ENST00000244426	ensembl	human	known	74_37	silent	SNP	1.000	T
GSN	2934	genome.wustl.edu	37	9	124072904	124072904	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:124072904C>T	ENST00000373818.4	+	4	573				GSN_ENST00000449733.1_Intron|GSN_ENST00000373807.1_5'Flank|GSN_ENST00000412819.1_Intron|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373823.3_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	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						CCCCTTCTTCCATATCTGCTT	0.517																																																	0								ENSG00000148180																																			GSN	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	ENST00000373818.4:c.505-58C>T	9.37:g.124072904C>T		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	24	22.58	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000373818.4	37	NULL	CCDS6828.1	9																																																																																			-	-		0.517	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	protein_coding	OTTHUMT00000053861.1	C	NM_000177	-		124072904	+1	no_errors	ENST00000485767	ensembl	human	known	74_37	rna	SNP	0.000	T
MBL1P	8512	genome.wustl.edu	37	10	81680768	81680768	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:81680768G>A	ENST00000480805.1	+	0	835					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GGAAACACAGGGACTTCTGGA	0.597																																																	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.81680768G>A		Somatic	0	188	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	78	21.21		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000480805.1	37	NULL		10																																																																																			-	-		0.597	MBL1P-001	KNOWN	basic	processed_transcript	MBL1P	pseudogene	OTTHUMT00000049017.1	G		-		81680768	+1	no_errors	ENST00000453174	ensembl	human	known	74_37	rna	SNP	0.123	A
MUC16	94025	genome.wustl.edu	37	19	9076627	9076627	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:9076627G>A	ENST00000397910.4	-	3	11022	c.10819C>T	c.(10819-10821)Cct>Tct	p.P3607S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3608	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGTTCCAGGAGATCTTGCA	0.448																																																	0								ENSG00000181143						169.0	173.0	172.0					19																	9076627		2011	4182	6193	MUC16	SO:0001583	missense	0			-	HGNC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10819C>T	19.37:g.9076627G>A	ENSP00000381008:p.Pro3607Ser	Somatic	0	86	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	40	18.37	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.P3607S	ENST00000397910.4	37	c.10819	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	4.526	0.097637	0.08681	.	.	ENSG00000181143	ENST00000397910	T	0.03124	4.04	2.03	0.982	0.19762	.	.	.	.	.	T	0.04907	0.0132	N	0.08118	0	.	.	.	D	0.71674	0.998	D	0.69479	0.964	T	0.40040	-0.9584	8	0.87932	D	0	.	4.2896	0.10872	0.205:0.0:0.795:0.0	.	3607	B5ME49	.	S	3607	ENSP00000381008:P3607S	ENSP00000381008:P3607S	P	-	1	0	MUC16	8937627	0.040000	0.19996	0.003000	0.11579	0.245000	0.25701	0.630000	0.24553	0.401000	0.25424	0.313000	0.20887	CCT	-	NULL		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9076627	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	missense	SNP	0.004	A
ZNF221	7638	genome.wustl.edu	37	19	44470773	44470775	+	In_Frame_Del	DEL	AGG	AGG	-	rs150467733		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	AGG	AGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:44470773_44470775delAGG	ENST00000251269.5	+	6	1447_1449	c.1119_1121delAGG	c.(1117-1122)aaaggc>aac	p.373_374KG>N	ZNF221_ENST00000592350.1_In_Frame_Del_p.373_374KG>N|ZNF221_ENST00000587682.1_In_Frame_Del_p.373_374KG>N	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AATGTGGAAAAGGCTTCATTTGT	0.414																																																	0								ENSG00000159905																																			ZNF221	SO:0001651	inframe_deletion	0				HGNC	AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1119_1121delAGG	19.37:g.44470773_44470775delAGG	ENSP00000251269:p.Lys373_Gly374delinsAsn	Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B2RAI6|Q2M2H2|Q9P1U8	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.KG373in_frame_delN	ENST00000251269.5	37	c.1119_1121	CCDS12633.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.414	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	protein_coding	OTTHUMT00000460068.1	AGG				44470775	+1	no_errors	ENST00000251269	ensembl	human	known	74_37	in_frame_del	DEL	0.116:0.010:0.049	-
RAB11FIP1	80223	genome.wustl.edu	37	8	37729999	37729999	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:37729999G>A	ENST00000330843.4	-	4	2333	c.2321C>T	c.(2320-2322)cCt>cTt	p.P774L	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	774					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CATGGGAAGAGGGGGCGCCAC	0.557																																																	0								ENSG00000156675						81.0	85.0	84.0					8																	37729999		2203	4300	6503	RAB11FIP1	SO:0001583	missense	0			-	HGNC	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2321C>T	8.37:g.37729999G>A	ENSP00000331342:p.Pro774Leu	Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P774L	ENST00000330843.4	37	c.2321	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074094	0.55646	.	.	ENSG00000156675	ENST00000330843	T	0.16196	2.36	4.49	1.58	0.23477	.	0.319063	0.22625	N	0.057648	T	0.09335	0.0230	N	0.24115	0.695	0.09310	N	0.999997	P;B	0.34639	0.461;0.014	B;B	0.33339	0.162;0.006	T	0.19582	-1.0301	10	0.45353	T	0.12	-3.9985	4.7946	0.13267	0.2071:0.1769:0.616:0.0	.	103;774	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	L	774	ENSP00000331342:P774L	ENSP00000331342:P774L	P	-	2	0	RAB11FIP1	37849157	0.000000	0.05858	0.011000	0.14972	0.143000	0.21401	0.397000	0.20883	0.323000	0.23307	0.655000	0.94253	CCT	-	NULL		0.557	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	G	NM_025151	-		37729999	-1	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	SNP	0.002	A
TNFAIP8L1	126282	genome.wustl.edu	37	19	4652151	4652151	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:4652151C>T	ENST00000536716.1	+	2	416	c.270C>T	c.(268-270)ttC>ttT	p.F90F	AC005339.2_ENST00000598070.1_RNA|TNFAIP8L1_ENST00000327473.4_Silent_p.F90F	NM_001167942.1	NP_001161414.1	Q8WVP5	TP8L1_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 1	90					negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)				endometrium(1)	1				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCGGCGCTTCCGCCACCGGG	0.697																																																	0								ENSG00000185361						24.0	25.0	25.0					19																	4652151		2155	4214	6369	TNFAIP8L1	SO:0001819	synonymous_variant	0			-	HGNC	BC017672	CCDS12132.1	19p13.3	2008-02-05				ENSG00000185361			28279	protein-coding gene	gene with protein product		615869				12477932	Standard	NM_001167942		Approved	MGC17791	uc002max.3	Q8WVP5		ENST00000536716.1:c.270C>T	19.37:g.4652151C>T		Somatic	0	109	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	D6W627	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF758	p.F90	ENST00000536716.1	37	c.270	CCDS12132.1	19																																																																																			-	pfam_DUF758		0.697	TNFAIP8L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP8L1	protein_coding	OTTHUMT00000458662.1	C	NM_152362	-		4652151	+1	no_errors	ENST00000327473	ensembl	human	known	74_37	silent	SNP	0.993	T
PNPLA7	375775	genome.wustl.edu	37	9	140372653	140372653	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:140372653C>T	ENST00000277531.4	-	24	2875				PNPLA7_ENST00000406427.1_Intron|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Intron	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7						lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACCCTCGGCCGAGACCTCG	0.637																																																	0								ENSG00000130653						11.0	10.0	11.0					9																	140372653		1973	3895	5868	PNPLA7	SO:0001627	intron_variant	0			-	HGNC	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2689-49G>A	9.37:g.140372653C>T		Somatic	0	103	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	59	31.40	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000277531.4	37	NULL	CCDS7045.1	9																																																																																			-	-		0.637	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	protein_coding	OTTHUMT00000254787.1	C	NM_152286	-		140372653	-1	no_errors	ENST00000469998	ensembl	human	known	74_37	rna	SNP	0.003	T
FAM187B	148109	genome.wustl.edu	37	19	35715857	35715857	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:35715857C>T	ENST00000324675.3	-	2	1029	c.981G>A	c.(979-981)gcG>gcA	p.A327A		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	327						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCACGGAGTCCGCCCTGCCCC	0.682																																																	0								ENSG00000177558						33.0	34.0	34.0					19																	35715857		2203	4300	6503	FAM187B	SO:0001819	synonymous_variant	0			-	HGNC	AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.981G>A	19.37:g.35715857C>T		Somatic	0	109	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q8N7G6	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A327	ENST00000324675.3	37	c.981	CCDS12448.1	19																																																																																			-	NULL		0.682	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	protein_coding	OTTHUMT00000378854.1	C	NM_152481	-		35715857	-1	no_errors	ENST00000324675	ensembl	human	known	74_37	silent	SNP	0.000	T
SYT4	6860	genome.wustl.edu	37	18	40853563	40853563	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:40853563G>A	ENST00000255224.3	-	2	1199	c.831C>T	c.(829-831)atC>atT	p.I277I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.I259I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	277	Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TTCTCTTGATGATCTCTCTAT	0.294																																					NSCLC(85;81 1419 2855 22820 35912)												0								ENSG00000132872						31.0	33.0	32.0					18																	40853563		2153	4262	6415	SYT4	SO:0001819	synonymous_variant	0			-	HGNC	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.831C>T	18.37:g.40853563G>A		Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	B4DEU3|Q9P2K4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.I277	ENST00000255224.3	37	c.831	CCDS11922.1	18																																																																																			-	NULL		0.294	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	protein_coding	OTTHUMT00000255851.2	G	NM_020783	-		40853563	-1	no_errors	ENST00000255224	ensembl	human	known	74_37	silent	SNP	1.000	A
PHYH	5264	genome.wustl.edu	37	10	13323065	13323065	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:13323065C>T	ENST00000263038.4	-	8	932	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	PHYH_ENST00000396920.3_Missense_Mutation_p.V275M|PHYH_ENST00000396913.2_Missense_Mutation_p.V192M	NM_006214.3	NP_006205.1	O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	292					cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|isoprenoid metabolic process (GO:0006720)|methyl-branched fatty acid metabolic process (GO:0097089)|small molecule metabolic process (GO:0044281)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	cofactor binding (GO:0048037)|electron carrier activity (GO:0009055)|L-ascorbic acid binding (GO:0031418)|metal ion binding (GO:0046872)|phytanoyl-CoA dioxygenase activity (GO:0048244)			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	GTGCCCTTCACGTCAATGTAG	0.413																																																	0								ENSG00000107537						148.0	131.0	136.0					10																	13323065		2203	4300	6503	PHYH	SO:0001583	missense	0			-	HGNC		CCDS7097.1, CCDS41489.1	10p13	2010-04-27	2006-01-09		ENSG00000107537	ENSG00000107537	1.14.11.18		8940	protein-coding gene	gene with protein product	"""Refsum disease"", ""phytanoyl-CoA dioxygenase"""	602026	"""phytanoyl-CoA hydroxylase (Refsum disease)"", ""phytanoyl-CoA hydroxylase"""			9326939	Standard	XM_005252469		Approved	PAHX, RD, PHYH1	uc001imf.3	O14832	OTTHUMG00000017693	ENST00000263038.4:c.874G>A	10.37:g.13323065C>T	ENSP00000263038:p.Val292Met	Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	A8MTS8|B1ALH5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Phytyl_CoA_dOase	p.V292M	ENST00000263038.4	37	c.874	CCDS7097.1	10	.	.	.	.	.	.	.	.	.	.	C	18.94	3.730421	0.69074	.	.	ENSG00000107537	ENST00000396913;ENST00000263038;ENST00000396920	D;D;D	0.90504	-2.68;-2.68;-2.68	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.95236	0.8455	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.61658	0.836;0.892	D	0.95676	0.8728	10	0.87932	D	0	-29.2648	19.0834	0.93192	0.0:1.0:0.0:0.0	.	275;292	B1ALH6;O14832	.;PAHX_HUMAN	M	192;292;275	ENSP00000380121:V192M;ENSP00000263038:V292M;ENSP00000380126:V275M	ENSP00000263038:V292M	V	-	1	0	PHYH	13363071	1.000000	0.71417	0.940000	0.37924	0.216000	0.24613	7.563000	0.82314	2.527000	0.85204	0.591000	0.81541	GTG	-	NULL		0.413	PHYH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYH	protein_coding	OTTHUMT00000046845.2	C		-		13323065	-1	no_errors	ENST00000263038	ensembl	human	known	74_37	missense	SNP	1.000	T
MAP3K5	4217	genome.wustl.edu	37	6	136963669	136963669	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:136963669G>T	ENST00000359015.4	-	12	2187	c.1827C>A	c.(1825-1827)gtC>gtA	p.V609V	MAP3K5_ENST00000355845.4_5'UTR|RP3-325F22.3_ENST00000432477.1_RNA	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	609					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCACTCCCCTGACAGAAGAGG	0.328																																																	0								ENSG00000197442						147.0	156.0	153.0					6																	136963669		2203	4300	6503	MAP3K5	SO:0001819	synonymous_variant	0			-	HGNC	U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.1827C>A	6.37:g.136963669G>T		Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	A6NIA0|B4DGB2|Q5THN3|Q99461	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V609	ENST00000359015.4	37	c.1827	CCDS5179.1	6																																																																																			-	NULL		0.328	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	G		-		136963669	-1	no_errors	ENST00000359015	ensembl	human	known	74_37	silent	SNP	0.998	T
TAS2R31	259290	genome.wustl.edu	37	12	11183124	11183124	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:11183124A>G	ENST00000390675.2	-	1	882	c.811T>C	c.(811-813)Tat>Cat	p.Y271H	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	271					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						ATTGAAGGATAGCTGAATCTA	0.413																																																	0								ENSG00000256436						195.0	199.0	198.0					12																	11183124		2052	4229	6281	TAS2R31	SO:0001583	missense	0			-	HGNC	AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.811T>C	12.37:g.11183124A>G	ENSP00000375093:p.Tyr271His	Somatic	0	205	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	95	18.80	P59547|Q17R84|Q645X5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TAS2_rcpt	p.Y271H	ENST00000390675.2	37	c.811	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	.	9.417	1.082047	0.20309	.	.	ENSG00000256436	ENST00000390675	T	0.01159	5.25	2.62	1.43	0.22495	.	.	.	.	.	T	0.04861	0.0131	H	0.96142	3.775	0.09310	N	1	B	0.32604	0.377	B	0.41202	0.35	T	0.11966	-1.0566	9	0.87932	D	0	.	4.5219	0.11962	0.8317:0.0:0.1683:0.0	.	271	P59538	T2R31_HUMAN	H	271	ENSP00000375093:Y271H	ENSP00000375093:Y271H	Y	-	1	0	TAS2R31	11074391	0.074000	0.21230	0.030000	0.17652	0.052000	0.14988	1.029000	0.30140	0.261000	0.21753	0.163000	0.16589	TAT	-	pfam_TAS2_rcpt		0.413	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	protein_coding	OTTHUMT00000400233.1	A	NM_176885	-		11183124	-1	no_errors	ENST00000390675	ensembl	human	known	74_37	missense	SNP	0.182	G
MAPKBP1	23005	genome.wustl.edu	37	15	42092030	42092030	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:42092030G>A	ENST00000456763.2	+	3	320	c.124G>A	c.(124-126)Gag>Aag	p.E42K	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.E42K|MAPKBP1_ENST00000260357.7_Intron|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.E42K|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.E42K|MAPKBP1_ENST00000507762.1_3'UTR	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	42										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GGTGACCTTGGAGAAGGTGCT	0.522																																																	0								ENSG00000137802						147.0	123.0	131.0					15																	42092030		2203	4300	6503	MAPKBP1	SO:0001583	missense	0			-	HGNC	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.124G>A	15.37:g.42092030G>A	ENSP00000393099:p.Glu42Lys	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	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	p.E42K	ENST00000456763.2	37	c.124	CCDS45239.1	15	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	25.2|25.2	4.615646|4.615646	0.87359|0.87359	.|.	.|.	ENSG00000137802|ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000456763;ENST00000514566;ENST00000510535|ENST00000507762	T;T;T;T;T|.	0.60672|.	0.88;1.19;0.94;1.08;0.17|.	4.93|4.93	4.93|4.93	0.64822|0.64822	WD40 repeat-like-containing domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61426|0.61426	0.2346|0.2346	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.994|.	D;D;P|.	0.91635|.	0.999;0.982;0.902|.	T|T	0.56727|0.56727	-0.7931|-0.7931	10|5	0.22109|.	T|.	0.4|.	-24.4932|-24.4932	15.5354|15.5354	0.75998|0.75998	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	42;42;42|.	O60336-2;O60336;O60336-6|.	.;MABP1_HUMAN;.|.	K|E	42|22	ENSP00000397570:E42K;ENSP00000221214:E42K;ENSP00000393099:E42K;ENSP00000426154:E42K;ENSP00000422132:E42K|.	ENSP00000221214:E42K|.	E|G	+|+	1|2	0|0	MAPKBP1|MAPKBP1	39879322|39879322	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.938000|7.938000	0.87678|0.87678	2.713000|2.713000	0.92767|0.92767	0.655000|0.655000	0.94253|0.94253	GAG|GGA	-	superfamily_WD40_repeat_dom		0.522	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	MAPKBP1	protein_coding	OTTHUMT00000359745.1	G	NM_014994	-		42092030	+1	no_errors	ENST00000456763	ensembl	human	known	74_37	missense	SNP	1.000	A
DNAJC1	64215	genome.wustl.edu	37	10	22048458	22048458	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:22048458G>A	ENST00000376980.3	-	11	1527	c.1237C>T	c.(1237-1239)Cag>Tag	p.Q413*	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	413					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				TCCTCTCGCTGGGTGATCATG	0.607																																																	0								ENSG00000136770						49.0	44.0	46.0					10																	22048458		2203	4300	6503	DNAJC1	SO:0001587	stop_gained	0			-	HGNC	AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1237C>T	10.37:g.22048458G>A	ENSP00000366179:p.Gln413*	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	B0YIZ8|Q5VX89|Q9H6B8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.Q413*	ENST00000376980.3	37	c.1237	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799298	0.90538	.	.	ENSG00000136770	ENST00000376980	.	.	.	5.58	5.58	0.84498	.	0.452770	0.25411	N	0.030876	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-2.3151	19.5533	0.95330	0.0:0.0:1.0:0.0	.	.	.	.	X	413	.	ENSP00000366179:Q413X	Q	-	1	0	DNAJC1	22088464	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	7.295000	0.78780	2.639000	0.89480	0.491000	0.48974	CAG	-	NULL		0.607	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	protein_coding	OTTHUMT00000047149.1	G	NM_022365	-		22048458	-1	no_errors	ENST00000376980	ensembl	human	known	74_37	nonsense	SNP	1.000	A
ANKRD10	55608	genome.wustl.edu	37	13	111532383	111532383	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:111532383G>A	ENST00000267339.2	-	6	998	c.864C>T	c.(862-864)tcC>tcT	p.S288S	ANKRD10_ENST00000375758.5_3'UTR	NM_017664.2	NP_060134.2	Q9NXR5	ANR10_HUMAN	ankyrin repeat domain 10	288										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GCGGGGTCGTGGAGGGGAAGT	0.473																																																	0								ENSG00000088448						72.0	74.0	73.0					13																	111532383		2203	4300	6503	ANKRD10	SO:0001819	synonymous_variant	0			-	HGNC	AK000100	CCDS9520.1, CCDS66580.1	13q33.3	2013-01-10			ENSG00000088448	ENSG00000088448		"""Ankyrin repeat domain containing"""	20265	protein-coding gene	gene with protein product							Standard	NM_017664		Approved	FLJ20093	uc001vrn.3	Q9NXR5	OTTHUMG00000017349	ENST00000267339.2:c.864C>T	13.37:g.111532383G>A		Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	10	37.50	Q5VW12|Q9BV12	Silent	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	p.S288	ENST00000267339.2	37	c.864	CCDS9520.1	13																																																																																			-	NULL		0.473	ANKRD10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD10	protein_coding	OTTHUMT00000045783.1	G		-		111532383	-1	no_errors	ENST00000267339	ensembl	human	known	74_37	silent	SNP	0.228	A
ZFHX4	79776	genome.wustl.edu	37	8	77766189	77766189	+	Silent	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:77766189A>G	ENST00000521891.2	+	10	7480	c.7032A>G	c.(7030-7032)caA>caG	p.Q2344Q	ZFHX4_ENST00000518282.1_Silent_p.Q2318Q|ZFHX4_ENST00000050961.6_Silent_p.Q2299Q|ZFHX4_ENST00000455469.2_Silent_p.Q2299Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATGATGCCCAAGATGAAAGCC	0.443										HNSCC(33;0.089)																																							0								ENSG00000091656						190.0	181.0	184.0					8																	77766189		2050	4205	6255	ZFHX4	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7032A>G	8.37:g.77766189A>G		Somatic	0	25	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	G3V138|Q18PS0|Q6ZN20	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Q2344	ENST00000521891.2	37	c.7032	CCDS47878.2	8																																																																																			-	NULL		0.443	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	protein_coding	OTTHUMT00000379197.2	A	NM_024721	-		77766189	+1	no_errors	ENST00000521891	ensembl	human	known	74_37	silent	SNP	0.996	G
SLC26A7	115111	genome.wustl.edu	37	8	92261935	92261935	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:92261935C>T	ENST00000276609.3	+	2	295	c.56C>T	c.(55-57)cCc>cTc	p.P19L	SLC26A7_ENST00000523719.1_Missense_Mutation_p.P19L|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P19L	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			ATGCATACCCCCCAGTGTGAA	0.408																																																	0								ENSG00000147606						126.0	110.0	115.0					8																	92261935		2203	4300	6503	SLC26A7	SO:0001583	missense	0			-	HGNC	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.56C>T	8.37:g.92261935C>T	ENSP00000276609:p.Pro19Leu	Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.P19L	ENST00000276609.3	37	c.56	CCDS6254.1	8	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.302822	0.01353	.	.	ENSG00000147606	ENST00000522862;ENST00000523719;ENST00000276609;ENST00000309536	D;D;D;D	0.92299	-2.75;-3.01;-3.01;-3.01	5.55	3.52	0.40303	.	0.484251	0.20600	N	0.089161	D	0.83326	0.5230	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.001	T	0.70163	-0.4947	10	0.36615	T	0.2	.	4.3348	0.11081	0.0:0.6195:0.0:0.3805	.	19;19	Q8TE54-2;Q8TE54	.;S26A7_HUMAN	L	19	ENSP00000428881:P19L;ENSP00000428849:P19L;ENSP00000276609:P19L;ENSP00000309504:P19L	ENSP00000276609:P19L	P	+	2	0	SLC26A7	92331111	0.000000	0.05858	0.015000	0.15790	0.698000	0.40448	0.823000	0.27366	1.350000	0.45770	-0.252000	0.11476	CCC	-	NULL		0.408	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC26A7	protein_coding	OTTHUMT00000377011.1	C		-		92261935	+1	no_errors	ENST00000309536	ensembl	human	known	74_37	missense	SNP	0.005	T
MFN1	55669	genome.wustl.edu	37	3	179069740	179069740	+	Silent	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179069740A>T	ENST00000471841.1	+	3	291	c.165A>T	c.(163-165)gtA>gtT	p.V55V	MFN1_ENST00000280653.7_Silent_p.V55V|MFN1_ENST00000263969.5_Silent_p.V55V	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	55					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ATGATCTGGTAGAAATGCAAG	0.348																																																	0								ENSG00000171109						141.0	138.0	139.0					3																	179069740		2203	4300	6503	MFN1	SO:0001819	synonymous_variant	0			-	HGNC	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.165A>T	3.37:g.179069740A>T		Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	45	21.05	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.V55	ENST00000471841.1	37	c.165	CCDS3228.1	3																																																																																			-	NULL		0.348	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	A	NM_017927	-		179069740	+1	no_errors	ENST00000263969	ensembl	human	known	74_37	silent	SNP	0.003	T
MT-CO2	4513	genome.wustl.edu	37	M	7776	7776	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrM:7776T>C	ENST00000361739.1	+	1	191	c.191T>C	c.(190-192)gTc>gCc	p.V64A	MT-TK_ENST00000387421.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TY_ENST00000387409.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	64					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						AATAGAAACCGTCTGAACTAT	0.463																																																	0								ENSG00000198712																																			MT-CO2	SO:0001583	missense	0			-	HGNC			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.191T>C	M.37:g.7776T>C	ENSP00000354876:p.Val64Ala	Somatic	0	1160	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	468	199	69.96	Q37526	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.V64A	ENST00000361739.1	37	c.191		MT																																																																																			-	pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2		0.463	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	protein_coding		T	YP_003024029	-		7776	+1	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	SNP	NULL	C
PDXDC1	23042	genome.wustl.edu	37	16	15221854	15221854	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:15221854G>A	ENST00000535621.2	+	17	1587				PKD1P6_ENST00000424133.2_RNA|RP11-1186N24.5_ENST00000605794.1_RNA			Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1						carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTACTCGCGGCCAGCACCTC	0.657																																																	0								ENSG00000250251																																			PKD1P6	SO:0001627	intron_variant	0			-	HGNC	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000535621.2:c.1400-10882G>A	16.37:g.15221854G>A		Somatic	0	179	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	51	34.62	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000535621.2	37	NULL		16	.	.	.	.	.	.	.	.	.	.	.	6.151	0.396140	0.11638	.	.	ENSG00000188599	ENST00000358815	.	.	.	.	.	.	.	.	.	.	.	T	0.59676	0.2211	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58154	-0.7686	4	0.87932	D	0	.	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	.	.	.	S	382	.	ENSP00000440053:P382S	P	-	1	0	NPIPP1	15129355	0.931000	0.31567	0.031000	0.17742	0.031000	0.12232	3.396000	0.52565	0.088000	0.17205	0.089000	0.15464	CCG	-	-		0.657	PDXDC1-016	PUTATIVE	basic	protein_coding	PKD1P6	protein_coding	OTTHUMT00000422421.1	G	NM_015027	-		15221854	-1	no_errors	ENST00000424133	ensembl	human	known	74_37	rna	SNP	1.000	A
AKNA	80709	genome.wustl.edu	37	9	117130751	117130751	+	Missense_Mutation	SNP	G	G	A	rs368698649		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:117130751G>A	ENST00000307564.4	-	5	1702	c.1541C>T	c.(1540-1542)cCg>cTg	p.P514L	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.P433L|AKNA_ENST00000312033.3_Missense_Mutation_p.P514L|AKNA_ENST00000374088.3_Missense_Mutation_p.P514L	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	514					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	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)	p.P514L(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTCCTCGGCCGGGCCCGGCCA	0.662													g|||	1	0.000199681	0.0	0.0	5008	,	,		15805	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)						ENSG00000106948	A	LEU/PRO	0,4404		0,0,2202	35.0	33.0	34.0		1541	4.0	0.0	9		34	1,8597		0,1,4298	no	missense	AKNA	NM_030767.4	98	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	514/1440	117130751	1,13001	2202	4299	6501	AKNA	SO:0001583	missense	0			-	HGNC	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1541C>T	9.37:g.117130751G>A	ENSP00000303769:p.Pro514Leu	Somatic	0	114	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	63	20.99	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_AT-hook	p.P514L	ENST00000307564.4	37	c.1541	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	g	12.50	1.955847	0.34471	0.0	1.16E-4	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033	T;T;T;T	0.37411	2.41;2.41;2.41;1.2	4.87	3.98	0.46160	.	0.545068	0.16949	N	0.192969	T	0.33206	0.0855	L	0.36672	1.1	0.21256	N	0.999748	D;B	0.58268	0.982;0.023	P;B	0.47102	0.537;0.007	T	0.12604	-1.0541	10	0.66056	D	0.02	-4.1785	9.206	0.37289	0.0978:0.0:0.9022:0.0	.	514;433	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	L	514;355;514;433;514	ENSP00000303769:P514L;ENSP00000363201:P514L;ENSP00000363188:P433L;ENSP00000309222:P514L	ENSP00000303769:P514L	P	-	2	0	AKNA	116170572	0.008000	0.16893	0.003000	0.11579	0.034000	0.12701	1.653000	0.37323	1.291000	0.44653	-0.119000	0.15052	CCG	-	NULL		0.662	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	protein_coding	OTTHUMT00000053767.2	G	NM_030767	-		117130751	-1	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	SNP	0.003	A
TGFBRAP1	9392	genome.wustl.edu	37	2	105897047	105897047	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:105897047C>A	ENST00000393359.2	-	6	1681	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	TGFBRAP1_ENST00000258449.1_Nonsense_Mutation_p.E419*			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	419					intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCATCTTCTCCTGGTCCCCC	0.577																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												0								ENSG00000135966						146.0	125.0	132.0					2																	105897047		2203	4300	6503	TGFBRAP1	SO:0001587	stop_gained	0			-	HGNC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.1255G>T	2.37:g.105897047C>A	ENSP00000377027:p.Glu419*	Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	39	23.53	A8K5R7|D3DVJ8|O60466	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,pfam_Citron	p.E419*	ENST00000393359.2	37	c.1255	CCDS2067.1	2	.	.	.	.	.	.	.	.	.	.	C	43	9.917879	0.99295	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	.	.	.	5.29	5.29	0.74685	.	0.105686	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	-25.3505	18.9426	0.92610	0.0:1.0:0.0:0.0	.	.	.	.	X	419	.	ENSP00000258449:E419X	E	-	1	0	TGFBRAP1	105263479	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.796000	0.62496	2.463000	0.83235	0.650000	0.86243	GAG	-	NULL		0.577	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBRAP1	protein_coding	OTTHUMT00000253354.2	C	NM_004257	-		105897047	-1	no_errors	ENST00000258449	ensembl	human	known	74_37	nonsense	SNP	1.000	A
POLRMT	5442	genome.wustl.edu	37	19	621577	621577	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:621577delC	ENST00000588649.2	-	10	2205	c.2121delG	c.(2119-2121)tggfs	p.W707fs	LLNLR-299G3.1_ENST00000607288.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	707					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTGACGCGCCAGGCGCAGT	0.731																																																	0								ENSG00000099821						5.0	4.0	5.0					19																	621577		2018	3928	5946	POLRMT	SO:0001589	frameshift_variant	0				HGNC		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.2121delG	19.37:g.621577delC	ENSP00000465759:p.Trp707fs	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	O60370	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DNA-dir_Rpol_phage-type	p.W707fs	ENST00000588649.2	37	c.2121	CCDS12036.1	19																																																																																			-	NULL		0.731	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	POLRMT	protein_coding	OTTHUMT00000452172.3	C	NM_005035			621577	-1	no_errors	ENST00000588649	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
CELSR2	1952	genome.wustl.edu	37	1	109817314	109817314	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:109817314C>T	ENST00000271332.3	+	0	9476				CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAGAAGGACTCAGCGCCCCTG	0.657																																					NSCLC(158;1285 2011 34800 34852 42084)												0								ENSG00000143126																																			CELSR2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.*643C>T	1.37:g.109817314C>T		Somatic	0	127	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	42	32.26	Q5T2Y7|Q92566	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000271332.3	37	NULL	CCDS796.1	1																																																																																			-	-		0.657	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	protein_coding	OTTHUMT00000033200.1	C	NM_001408	-		109817314	+1	no_errors	ENST00000498157	ensembl	human	known	74_37	rna	SNP	0.964	T
WNT8B	7479	genome.wustl.edu	37	10	102222945	102222945	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:102222945C>T	ENST00000343737.5	+	1	148	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	7					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|determination of dorsal identity (GO:0048263)|gastrulation (GO:0007369)|negative regulation of gene expression (GO:0010629)|nervous system development (GO:0007399)|neuron differentiation (GO:0030182)|positive regulation of gene expression (GO:0010628)|response to estradiol (GO:0032355)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TCAAAGCCTTCTGTGTACATC	0.433																																																	0								ENSG00000075290						149.0	142.0	144.0					10																	102222945		2203	4300	6503	WNT8B	SO:0001583	missense	0			-	HGNC	X91940	CCDS7494.1	10q24	2003-11-12			ENSG00000075290	ENSG00000075290		"""Wingless-type MMTV integration sites"""	12789	protein-coding gene	gene with protein product		601396				8661156	Standard	NM_003393		Approved		uc001krb.3	Q93098	OTTHUMG00000018912	ENST00000343737.5:c.20C>T	10.37:g.102222945C>T	ENSP00000340677:p.Ser7Phe	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	24	20.00	O00771|Q5VX55|Q8WYK9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8	p.S7F	ENST00000343737.5	37	c.20	CCDS7494.1	10	.	.	.	.	.	.	.	.	.	.	C	12.74	2.028894	0.35797	.	.	ENSG00000075290	ENST00000343737	T	0.74106	-0.81	5.85	3.93	0.45458	.	1.426790	0.03843	N	0.270911	T	0.50222	0.1603	N	0.02011	-0.69	0.19775	N	0.999956	B	0.02656	0.0	B	0.01281	0.0	T	0.43540	-0.9385	10	0.40728	T	0.16	.	4.507	0.11893	0.1921:0.4857:0.2482:0.074	.	7	Q93098	WNT8B_HUMAN	F	7	ENSP00000340677:S7F	ENSP00000340677:S7F	S	+	2	0	WNT8B	102212935	0.037000	0.19845	0.994000	0.49952	0.855000	0.48748	0.031000	0.13710	0.745000	0.32763	0.491000	0.48974	TCT	-	NULL		0.433	WNT8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT8B	protein_coding	OTTHUMT00000049867.1	C	NM_003393	-		102222945	+1	no_errors	ENST00000343737	ensembl	human	known	74_37	missense	SNP	0.960	T
UNC13D	201294	genome.wustl.edu	37	17	73839111	73839111	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:73839111C>T	ENST00000207549.4	-	4	684	c.305G>A	c.(304-306)cGg>cAg	p.R102Q	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.R102Q	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	102	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCCCTGACCCGCTGCAGTGT	0.706									Familial Hemophagocytic Lymphohistiocytosis																																								0								ENSG00000092929						28.0	31.0	30.0					17																	73839111		2203	4300	6503	UNC13D	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.305G>A	17.37:g.73839111C>T	ENSP00000207549:p.Arg102Gln	Somatic	0	23	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	B4DWG9|Q9H7K5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.R102Q	ENST00000207549.4	37	c.305	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724791	0.15439	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.39406	1.08;1.08	4.2	0.726	0.18248	C2 calcium/lipid-binding domain, CaLB (1);	0.907386	0.09273	N	0.824920	T	0.24275	0.0588	N	0.14661	0.345	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.26849	-1.0091	10	0.21540	T	0.41	-3.4289	8.8675	0.35296	0.0:0.5344:0.0:0.4656	.	102	Q70J99	UN13D_HUMAN	Q	102	ENSP00000207549:R102Q;ENSP00000388093:R102Q	ENSP00000207549:R102Q	R	-	2	0	UNC13D	71350706	0.000000	0.05858	0.001000	0.08648	0.137000	0.21094	-0.577000	0.05847	-0.133000	0.11537	0.561000	0.74099	CGG	-	superfamily_C2_dom		0.706	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	protein_coding	OTTHUMT00000448847.2	C	XM_113950	-		73839111	-1	no_errors	ENST00000412096	ensembl	human	known	74_37	missense	SNP	0.003	T
SH3GLB2	56904	genome.wustl.edu	37	9	131774519	131774519	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:131774519G>A	ENST00000372564.3	-	6	765	c.620C>T	c.(619-621)tCc>tTc	p.S207F	SH3GLB2_ENST00000372559.1_Missense_Mutation_p.S207F|SH3GLB2_ENST00000417224.1_Missense_Mutation_p.S207F|SH3GLB2_ENST00000416629.1_Intron|SH3GLB2_ENST00000372554.4_Missense_Mutation_p.S211F	NM_020145.2	NP_064530.1	Q9NR46	SHLB2_HUMAN	SH3-domain GRB2-like endophilin B2	207	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.					cytoplasm (GO:0005737)				NS(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)	12						GCTTACCGCGGAGGCGCTGGC	0.632																																																	0								ENSG00000148341						41.0	33.0	36.0					9																	131774519		2193	4284	6477	SH3GLB2	SO:0001583	missense	0			-	HGNC	AF257319	CCDS6916.1, CCDS69680.1	9q34	2008-02-05	2001-12-04		ENSG00000148341	ENSG00000148341			10834	protein-coding gene	gene with protein product		609288	"""SH3-domain, GRB2-like, endophilin B2"""			11161816	Standard	NM_020145		Approved	KIAA1848	uc004bwv.3	Q9NR46	OTTHUMG00000020769	ENST00000372564.3:c.620C>T	9.37:g.131774519G>A	ENSP00000361645:p.Ser207Phe	Somatic	1	160	0.62		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	116	15.33	A6NC47|A8MPS4|Q8WY61|Q96JH9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.S211F	ENST00000372564.3	37	c.632	CCDS6916.1	9	.	.	.	.	.	.	.	.	.	.	G	35	5.418129	0.96092	.	.	ENSG00000148341	ENST00000372564;ENST00000372559;ENST00000543311;ENST00000372554;ENST00000417224	T;T;T;T	0.18810	2.19;2.19;2.2;2.22	5.81	5.81	0.92471	BAR (3);	0.000000	0.85682	D	0.000000	T	0.31451	0.0797	M	0.70595	2.14	0.80722	D	1	P;P	0.38767	0.646;0.642	P;B	0.45037	0.467;0.394	T	0.07947	-1.0746	10	0.06099	T	0.92	-0.488	19.0707	0.93134	0.0:0.0:1.0:0.0	.	211;207	Q9NR46-2;Q9NR46	.;SHLB2_HUMAN	F	207;207;211;211;207	ENSP00000361645:S207F;ENSP00000361640:S207F;ENSP00000361634:S211F;ENSP00000402566:S207F	ENSP00000361634:S211F	S	-	2	0	SH3GLB2	130814340	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.863000	0.99569	2.746000	0.94184	0.655000	0.94253	TCC	-	pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom		0.632	SH3GLB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB2	protein_coding	OTTHUMT00000054535.2	G		-		131774519	-1	no_errors	ENST00000372554	ensembl	human	known	74_37	missense	SNP	1.000	A
TENM1	10178	genome.wustl.edu	37	X	123630962	123630962	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:123630962A>G	ENST00000371130.3	-	20	3662	c.3599T>C	c.(3598-3600)tTa>tCa	p.L1200S	TENM1_ENST00000422452.2_Missense_Mutation_p.L1200S|TENM1_ENST00000461429.1_5'UTR	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1200					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCCAGAAGCTAAGGCGACAGG	0.458																																																	0								ENSG00000009694						115.0	103.0	107.0					X																	123630962		2203	4300	6503	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3599T>C	X.37:g.123630962A>G	ENSP00000360171:p.Leu1200Ser	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	B2RTR5|Q5JZ17	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.L1200S	ENST00000371130.3	37	c.3599	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	17.04	3.287361	0.59976	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.91740	-2.9;-2.9	5.31	5.31	0.75309	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000007	D	0.93387	0.7891	M	0.83483	2.645	0.80722	D	1	B;P;P	0.40000	0.361;0.546;0.698	B;B;B	0.43575	0.1;0.177;0.424	D	0.93962	0.7241	10	0.87932	D	0	.	14.3411	0.66627	1.0:0.0:0.0:0.0	.	1199;1200;1200	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	S	1200	ENSP00000360171:L1200S;ENSP00000403954:L1200S	ENSP00000360171:L1200S	L	-	2	0	ODZ1	123458643	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.335000	0.96500	1.765000	0.52091	0.486000	0.48141	TTA	-	NULL		0.458	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	A	NM_014253	-		123630962	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	G
LOC388942	388942	genome.wustl.edu	37	2	42119809	42119809	+	lincRNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:42119809C>T	ENST00000398796.2	+	0	433					NR_033996.1																						CAAGAGTCTTCCTGCCACAGA	0.562																																																	0								ENSG00000214691																																			AC104654.1			0			-	Clone_based_vega_gene																													2.37:g.42119809C>T		Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	11	42.11		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000398796.2	37	NULL		2																																																																																			-	-		0.562	AC104654.1-001	KNOWN	basic	lincRNA	LOC388942	lincRNA	OTTHUMT00000325742.2	C		-		42119809	+1	no_errors	ENST00000398796	ensembl	human	known	74_37	rna	SNP	0.992	T
EP400	57634	genome.wustl.edu	37	12	132445290	132445290	+	Silent	SNP	C	C	T	rs139666996		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:132445290C>T	ENST00000333577.4	+	2	235	c.126C>T	c.(124-126)ttC>ttT	p.F42F	EP400_ENST00000332482.4_Silent_p.F42F|EP400_ENST00000389561.2_Silent_p.F42F|EP400_ENST00000389562.2_Silent_p.F42F|EP400_ENST00000330386.6_Silent_p.F42F			Q96L91	EP400_HUMAN	E1A binding protein p400	42					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F42F(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCTCCCTTCGCTCCCTCAG	0.652																																																	1	Substitution - coding silent(1)	skin(1)						ENSG00000183495						24.0	27.0	26.0					12																	132445290		2196	4273	6469	EP400	SO:0001819	synonymous_variant	0			-	HGNC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.126C>T	12.37:g.132445290C>T		Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F42	ENST00000333577.4	37	c.126		12																																																																																			-	NULL		0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		C	NM_015409	rs139666996		132445290	+1	no_errors	ENST00000333577	ensembl	human	known	74_37	silent	SNP	0.968	T
RNF213	57674	genome.wustl.edu	37	17	78319813	78319813	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:78319813C>T	ENST00000582970.1	+	29	7821	c.7678C>T	c.(7678-7680)Cct>Tct	p.P2560S	RNF213_ENST00000336301.6_Missense_Mutation_p.P633S|RNF213_ENST00000508628.2_Missense_Mutation_p.P2609S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2560					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGCTCCATTCCTCTGAGGCA	0.562																																																	0								ENSG00000173821						55.0	51.0	52.0					17																	78319813		2203	4300	6503	RNF213	SO:0001583	missense	0			-	HGNC	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7678C>T	17.37:g.78319813C>T	ENSP00000464087:p.Pro2560Ser	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.P2560S	ENST00000582970.1	37	c.7678	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	14.23	2.472856	0.43942	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T;T	0.25912	1.91;1.77	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.56031	0.1958	M	0.83953	2.67	0.51233	D	0.999918	D	0.62365	0.991	D	0.70016	0.967	T	0.61594	-0.7031	10	0.72032	D	0.01	.	18.7595	0.91845	0.0:1.0:0.0:0.0	.	633	Q63HN8	RN213_HUMAN	S	2560;2609;633	ENSP00000425956:P2560S;ENSP00000338218:P633S	ENSP00000338218:P633S	P	+	1	0	RNF213	75934408	1.000000	0.71417	0.801000	0.32222	0.838000	0.47535	7.529000	0.81952	2.646000	0.89796	0.655000	0.94253	CCT	-	superfamily_P-loop_NTPase		0.562	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	C	NM_020914	-		78319813	+1	no_errors	ENST00000582970	ensembl	human	known	74_37	missense	SNP	1.000	T
ILKAP	80895	genome.wustl.edu	37	2	239098571	239098571	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:239098571C>T	ENST00000254654.3	-	4	396	c.221G>A	c.(220-222)gGg>gAg	p.G74E		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	74					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGCTCCTTTCCCTTCAGTCTT	0.398																																																	0								ENSG00000132323						116.0	113.0	114.0					2																	239098571		2203	4300	6503	ILKAP	SO:0001583	missense	0			-	HGNC	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.221G>A	2.37:g.239098571C>T	ENSP00000254654:p.Gly74Glu	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	B3KM39	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.G74E	ENST00000254654.3	37	c.221	CCDS2526.1	2	.	.	.	.	.	.	.	.	.	.	C	12.05	1.821558	0.32237	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.41065	2.06;1.01	5.85	5.85	0.93711	.	0.694974	0.15067	N	0.282419	T	0.19765	0.0475	N	0.03608	-0.345	0.35737	D	0.818341	B	0.02656	0.0	B	0.01281	0.0	T	0.09185	-1.0686	10	0.02654	T	1	-0.1449	14.5395	0.67982	0.0:0.8534:0.1466:0.0	.	74	Q9H0C8	ILKAP_HUMAN	E	74	ENSP00000254654:G74E;ENSP00000395301:G74E	ENSP00000254654:G74E	G	-	2	0	ILKAP	238763310	0.536000	0.26378	1.000000	0.80357	0.993000	0.82548	0.733000	0.26087	2.773000	0.95371	0.585000	0.79938	GGG	-	NULL		0.398	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	protein_coding	OTTHUMT00000257163.2	C	NM_030768	-		239098571	-1	no_errors	ENST00000254654	ensembl	human	known	74_37	missense	SNP	1.000	T
NOVA1	4857	genome.wustl.edu	37	14	27018943	27018943	+	5'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:27018943C>T	ENST00000267422.7	-	0	324				NOVA1_ENST00000547619.1_Intron|NOVA1_ENST00000344429.5_Intron|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000574031.1_Intron|NOVA1_ENST00000551754.1_Intron|NOVA1_ENST00000539517.2_Intron			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GGAGAAATACCTTCTGTACAG	0.473																																																	0								ENSG00000139910																																			NOVA1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000267422.7:c.-144G>A	14.37:g.27018943C>T		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_KH_dom_type_1,pfscan_KH_dom_type_1	p.G109S	ENST00000267422.7	37	c.325		14																																																																																			-	NULL		0.473	NOVA1-201	KNOWN	basic	protein_coding	NOVA1	protein_coding		C	NM_006491	-		27018943	-1	no_errors	ENST00000483536	ensembl	human	known	74_37	missense	SNP	1.000	T
PMS2CL	441194	genome.wustl.edu	37	7	6776938	6776938	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:6776938C>T	ENST00000486256.1	+	0	1065					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		TCTAGCACTTCAGATGCCATC	0.537																																																	0								ENSG00000187953																																			PMS2CL			0			-	HGNC	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6776938C>T		Somatic	0	106	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	45	30.77	B4DK88|Q764P1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000486256.1	37	NULL		7																																																																																			-	-		0.537	PMS2CL-002	KNOWN	basic	processed_transcript	PMS2CL	pseudogene	OTTHUMT00000324193.1	C	NR_002217	-		6776938	+1	no_errors	ENST00000486256	ensembl	human	known	74_37	rna	SNP	0.000	T
WDR87	83889	genome.wustl.edu	37	19	38380125	38380125	+	Missense_Mutation	SNP	T	T	G	rs367920295	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:38380125T>G	ENST00000303868.5	-	6	4293	c.4069A>C	c.(4069-4071)Atg>Ctg	p.M1357L	WDR87_ENST00000447313.2_Missense_Mutation_p.M1396L	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1357										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						AAGCCCAGCATGTCTCTTGCT	0.398																																																	0								ENSG00000171804						176.0	133.0	146.0					19																	38380125		692	1591	2283	WDR87	SO:0001583	missense	0			-	HGNC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.4069A>C	19.37:g.38380125T>G	ENSP00000368025:p.Met1357Leu	Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	15	28.57	Q9BWV9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M1396L	ENST00000303868.5	37	c.4186	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	T	6.839	0.524085	0.13066	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.08370	3.1;3.1	4.13	-4.49	0.03504	.	.	.	.	.	T	0.03434	0.0099	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46884	-0.9159	9	0.07482	T	0.82	.	6.7264	0.23359	0.0:0.43:0.2676:0.3024	.	1357;1396	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	L	1396;1357	ENSP00000405012:M1396L;ENSP00000368025:M1357L	ENSP00000368025:M1357L	M	-	1	0	WDR87	43071965	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-2.168000	0.01270	-1.237000	0.02539	0.363000	0.22086	ATG	-	superfamily_ARM-type_fold		0.398	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	protein_coding	OTTHUMT00000314628.2	T	XM_940478	-		38380125	-1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	SNP	0.000	G
AS3MT	57412	genome.wustl.edu	37	10	104660349	104660349	+	Splice_Site	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:104660349G>T	ENST00000369880.3	+	11	1097		c.e11-1		C10orf32-ASMT_ENST00000299353.6_Splice_Site	NM_020682.3	NP_065733.2	Q9HBK9	AS3MT_HUMAN	arsenite methyltransferase						arsonoacetate metabolic process (GO:0018872)|toxin metabolic process (GO:0009404)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	arsenite methyltransferase activity (GO:0030791)|methylarsonite methyltransferase activity (GO:0030792)			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CCTTTTGACAGGATATAATCA	0.398																																																	0								ENSG00000214435						133.0	127.0	129.0					10																	104660349		1945	4158	6103	AS3MT	SO:0001630	splice_region_variant	0			-	HGNC	AF226730	CCDS41567.1	10q24.33	2014-05-09	2014-05-09		ENSG00000214435	ENSG00000214435	2.1.1.137		17452	protein-coding gene	gene with protein product		611806	"""arsenic (+3 oxidation state) methyltransferase"""			11790780	Standard	NM_020682		Approved	CYT19	uc001kwk.3	Q9HBK9	OTTHUMG00000018972	ENST00000369880.3:c.1021-1G>T	10.37:g.104660349G>T		Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	36	18.18	A6NP79|Q0VDK3|Q0VDK4|Q5PZ02	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e11-1	ENST00000369880.3	37	c.1021-1	CCDS41567.1	10	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847330	0.91277	.	.	ENSG00000214435	ENST00000369880	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6236	0.68605	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AS3MT	104650339	1.000000	0.71417	0.984000	0.44739	0.836000	0.47400	4.307000	0.59123	2.610000	0.88304	0.561000	0.74099	.	-	-		0.398	AS3MT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AS3MT	protein_coding	OTTHUMT00000050107.1	G	NM_020682	-	Intron	104660349	+1	no_errors	ENST00000369880	ensembl	human	known	74_37	splice_site	SNP	0.995	T
SLC44A2	57153	genome.wustl.edu	37	19	10753629	10753629	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10753629G>A	ENST00000335757.5	+	22	2390				SLC44A2_ENST00000407327.4_Intron|SLC44A2_ENST00000586078.1_Missense_Mutation_p.E691K			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2						choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CATGTCGCCCGAGCTGAGAGA	0.642																																																	0								ENSG00000129353						28.0	26.0	27.0					19																	10753629		876	1991	2867	SLC44A2	SO:0001627	intron_variant	0			-	HGNC	AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2015-326G>A	19.37:g.10753629G>A		Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	38	32.14	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Choline_transptr-like	p.E691K	ENST00000335757.5	37	c.2071	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.475367	0.96291	.	.	ENSG00000129353	ENST00000380614	.	.	.	5.45	4.4	0.53042	.	.	.	.	.	T	0.23688	0.0573	.	.	.	0.25129	N	0.990586	B	0.09022	0.002	B	0.08055	0.003	T	0.07214	-1.0784	7	0.06494	T	0.89	.	15.343	0.74311	0.0:0.1403:0.8597:0.0	.	691	Q8IWA5-2	.	K	691	.	ENSP00000369988:E691K	E	+	1	0	SLC44A2	10614629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.115000	0.64655	1.300000	0.44818	0.561000	0.74099	GAG	-	NULL		0.642	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	protein_coding	OTTHUMT00000452045.1	G		-		10753629	+1	no_errors	ENST00000586078	ensembl	human	novel	74_37	missense	SNP	1.000	A
NUP54	53371	genome.wustl.edu	37	4	77065434	77065434	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:77065434C>T	ENST00000264883.3	-	3	303	c.163G>A	c.(163-165)Ggt>Agt	p.G55S	NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000514987.1_Intron	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	55	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TTCTGAGTACCACCAAAGAGT	0.373																																																	0								ENSG00000138750						198.0	206.0	204.0					4																	77065434		2203	4300	6503	NUP54	SO:0001583	missense	0			-	HGNC	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.163G>A	4.37:g.77065434C>T	ENSP00000264883:p.Gly55Ser	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G55S	ENST00000264883.3	37	c.163	CCDS3576.1	4	.	.	.	.	.	.	.	.	.	.	C	8.753	0.921837	0.17982	.	.	ENSG00000138750	ENST00000264883;ENST00000514901	.	.	.	5.65	3.01	0.34805	.	0.262850	0.43747	N	0.000521	T	0.21590	0.0520	N	0.01668	-0.77	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.05616	-1.0874	9	0.10636	T	0.68	-4.5726	10.9004	0.47049	0.0:0.7964:0.0:0.2036	.	55	Q7Z3B4	NUP54_HUMAN	S	55;109	.	ENSP00000264883:G55S	G	-	1	0	NUP54	77284458	1.000000	0.71417	0.883000	0.34634	0.890000	0.51754	1.996000	0.40776	0.333000	0.23563	0.655000	0.94253	GGT	-	NULL		0.373	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP54	protein_coding	OTTHUMT00000252402.3	C		-		77065434	-1	no_errors	ENST00000264883	ensembl	human	known	74_37	missense	SNP	1.000	T
TP53INP1	94241	genome.wustl.edu	37	8	95952344	95952344	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:95952344G>A	ENST00000342697.4	-	3	624	c.217C>T	c.(217-219)Ctt>Ttt	p.L73F	TP53INP1_ENST00000378776.4_Missense_Mutation_p.L73F|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_Missense_Mutation_p.L73F	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	73					apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)			kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAGCACTCAAGAGATGCCGGT	0.478																																																	0								ENSG00000164938						107.0	114.0	111.0					8																	95952344		2203	4300	6503	TP53INP1	SO:0001583	missense	0			-	HGNC	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.217C>T	8.37:g.95952344G>A	ENSP00000344215:p.Leu73Phe	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	B2RCE5|Q969R9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L73F	ENST00000342697.4	37	c.217	CCDS6265.1	8	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521105	0.44866	.	.	ENSG00000164938	ENST00000448464;ENST00000342697;ENST00000378776	T;T;T	0.46063	0.88;0.88;0.88	6.17	2.29	0.28610	.	0.125892	0.53938	D	0.000053	T	0.26048	0.0635	L	0.35414	1.06	0.43688	D	0.996135	B;P	0.37207	0.145;0.587	B;B	0.37267	0.099;0.245	T	0.03296	-1.1051	10	0.18710	T	0.47	-21.9296	5.8019	0.18417	0.3725:0.0:0.5048:0.1227	.	73;73	Q96A56-2;Q96A56	.;T53I1_HUMAN	F	73	ENSP00000390063:L73F;ENSP00000344215:L73F;ENSP00000368052:L73F	ENSP00000344215:L73F	L	-	1	0	TP53INP1	96021520	0.995000	0.38212	0.982000	0.44146	0.987000	0.75469	0.565000	0.23578	0.446000	0.26666	0.655000	0.94253	CTT	-	NULL		0.478	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53INP1	protein_coding	OTTHUMT00000379818.1	G		-		95952344	-1	no_errors	ENST00000342697	ensembl	human	known	74_37	missense	SNP	0.972	A
PVR	5817	genome.wustl.edu	37	19	45162066	45162066	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:45162066C>T	ENST00000425690.3	+	6	1347	c.1048C>T	c.(1048-1050)Ctg>Ttg	p.L350L	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.L350L|PVR_ENST00000344956.4_Intron|PVR_ENST00000403059.4_Intron	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	350					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|receptor activity (GO:0004872)			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CTTCCTGGTTCTGGGAATCCT	0.493																																																	0								ENSG00000073008						179.0	167.0	171.0					19																	45162066		2203	4300	6503	PVR	SO:0001819	synonymous_variant	0			-	HGNC	BC015542	CCDS12640.1, CCDS46105.1, CCDS46106.1, CCDS46107.1	19q13.2	2013-01-29			ENSG00000073008	ENSG00000073008		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9705	protein-coding gene	gene with protein product	"""nectin-like 5"""	173850		PVS		2170108	Standard	XM_005259120		Approved	CD155, HVED, Necl-5, NECL5, Tage4	uc002ozm.3	P15151	OTTHUMG00000151527	ENST00000425690.3:c.1048C>T	19.37:g.45162066C>T		Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	30	16.67	B4DTS9|P15152|Q15267|Q15268|Q96BJ1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.L350	ENST00000425690.3	37	c.1048	CCDS12640.1	19																																																																																			-	NULL		0.493	PVR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PVR	protein_coding	OTTHUMT00000323017.2	C	NM_006505	-		45162066	+1	no_errors	ENST00000425690	ensembl	human	known	74_37	silent	SNP	0.000	T
RFWD3	55159	genome.wustl.edu	37	16	74662523	74662523	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:74662523G>A	ENST00000361070.4	-	11	1893	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	RFWD3_ENST00000571750.1_Missense_Mutation_p.S599L	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	599					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						AAATGCAGCTGAGGCAGCTCT	0.522																																																	0								ENSG00000168411						144.0	146.0	145.0					16																	74662523		2198	4300	6498	RFWD3	SO:0001583	missense	0			-	HGNC	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1796C>T	16.37:g.74662523G>A	ENSP00000354361:p.Ser599Leu	Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.S599L	ENST00000361070.4	37	c.1796	CCDS32486.1	16	.	.	.	.	.	.	.	.	.	.	G	22.3	4.270039	0.80469	.	.	ENSG00000168411	ENST00000361070	T	0.21191	2.02	5.23	4.26	0.50523	.	0.124866	0.56097	D	0.000030	T	0.27866	0.0686	M	0.76574	2.34	0.58432	D	0.999999	P	0.44986	0.847	B	0.41813	0.367	T	0.08411	-1.0723	10	0.48119	T	0.1	-13.5069	12.9009	0.58125	0.0797:0.0:0.9203:0.0	.	599	Q6PCD5	RFWD3_HUMAN	L	599	ENSP00000354361:S599L	ENSP00000354361:S599L	S	-	2	0	RFWD3	73220024	1.000000	0.71417	0.541000	0.28102	0.992000	0.81027	7.612000	0.82975	1.180000	0.42898	0.655000	0.94253	TCA	-	NULL		0.522	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	protein_coding	OTTHUMT00000436506.2	G	NM_018124	-		74662523	-1	no_errors	ENST00000361070	ensembl	human	known	74_37	missense	SNP	0.995	A
APOB	338	genome.wustl.edu	37	2	21238125	21238125	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:21238125C>T	ENST00000233242.1	-	23	3643	c.3516G>A	c.(3514-3516)gaG>gaA	p.E1172E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1172					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)					ATTCAATCTTCTCTTCATCTG	0.403																																																	0								ENSG00000084674						102.0	96.0	98.0					2																	21238125		2203	4300	6503	APOB	SO:0001819	synonymous_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.3516G>A	2.37:g.21238125C>T		Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	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.E1172	ENST00000233242.1	37	c.3516	CCDS1703.1	2																																																																																			-	NULL		0.403	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21238125	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	silent	SNP	0.991	T
FLG	2312	genome.wustl.edu	37	1	152278855	152278855	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152278855C>T	ENST00000368799.1	-	3	8542	c.8507G>A	c.(8506-8508)aGt>aAt	p.S2836N	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2836	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTTGCACTTCTGGATCC	0.557									Ichthyosis																																								0								ENSG00000143631						268.0	401.0	356.0					1																	152278855		2167	4299	6466	FLG	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.8507G>A	1.37:g.152278855C>T	ENSP00000357789:p.Ser2836Asn	Somatic	0	257	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	116	10.08	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.S2836N	ENST00000368799.1	37	c.8507	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	8.146	0.786366	0.16189	.	.	ENSG00000143631	ENST00000368799;ENST00000368796	T	0.03745	3.82	1.87	-0.193	0.13244	.	.	.	.	.	T	0.01189	0.0039	M	0.76838	2.35	0.09310	N	1	P	0.36647	0.563	B	0.23150	0.044	T	0.45293	-0.9271	9	0.27785	T	0.31	-0.3021	3.458	0.07523	0.2109:0.3779:0.4112:0.0	.	2836	P20930	FILA_HUMAN	N	2836;98	ENSP00000357789:S2836N	ENSP00000357786:S98N	S	-	2	0	FLG	150545479	.	.	0.000000	0.03702	0.031000	0.12232	.	.	-0.040000	0.13580	0.306000	0.20318	AGT	-	NULL		0.557	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	protein_coding	OTTHUMT00000033742.1	C	NM_002016	-		152278855	-1	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	SNP	0.000	T
HAO1	54363	genome.wustl.edu	37	20	7886854	7886854	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:7886854T>A	ENST00000378789.3	-	4	719	c.668A>T	c.(667-669)aAa>aTa	p.K223I		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	223	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				cellular nitrogen compound metabolic process (GO:0034641)|fatty acid alpha-oxidation (GO:0001561)|glycolate catabolic process (GO:0046296)|glyoxylate metabolic process (GO:0046487)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|glycolate oxidase activity (GO:0008891)|glyoxylate oxidase activity (GO:0047969)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCTCAGCCATTTGATATCTTC	0.393																																																	0								ENSG00000101323						160.0	150.0	153.0					20																	7886854		2203	4300	6503	HAO1	SO:0001583	missense	0			-	HGNC	AL021879	CCDS13100.1	20p12	2005-01-10			ENSG00000101323	ENSG00000101323	1.1.3.15		4809	protein-coding gene	gene with protein product		605023		GOX1		9891009	Standard	NM_017545		Approved	GOX	uc002wmw.1	Q9UJM8	OTTHUMG00000031841	ENST00000378789.3:c.668A>T	20.37:g.7886854T>A	ENSP00000368066:p.Lys223Ile	Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q14CQ0|Q9UPZ0|Q9Y3I7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.K223I	ENST00000378789.3	37	c.668	CCDS13100.1	20	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715703	0.48622	.	.	ENSG00000101323	ENST00000378789	T	0.34667	1.35	5.54	1.47	0.22746	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.458425	0.27240	N	0.020280	T	0.37376	0.1001	M	0.66506	2.035	0.33261	D	0.559765	B;B	0.02656	0.0;0.0	B;B	0.17098	0.017;0.017	T	0.50874	-0.8776	10	0.51188	T	0.08	-4.7396	14.2847	0.66238	0.0:0.0:0.356:0.644	.	223;223	A8K058;Q9UJM8	.;HAOX1_HUMAN	I	223	ENSP00000368066:K223I	ENSP00000368066:K223I	K	-	2	0	HAO1	7834854	0.351000	0.24887	0.989000	0.46669	0.987000	0.75469	0.571000	0.23669	0.333000	0.23563	0.482000	0.46254	AAA	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN		0.393	HAO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO1	protein_coding	OTTHUMT00000077926.2	T		-		7886854	-1	no_errors	ENST00000378789	ensembl	human	known	74_37	missense	SNP	0.929	A
ZFP69B	65243	genome.wustl.edu	37	1	40928208	40928208	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:40928208C>T	ENST00000411995.2	+	6	927	c.552C>T	c.(550-552)tcC>tcT	p.S184S	ZFP69B_ENST00000484445.1_3'UTR|RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Silent_p.S82S	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	184					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GCATGTATTCCACCTTGGGAA	0.403																																																	0								ENSG00000187801						140.0	150.0	146.0					1																	40928208		2203	4300	6503	ZFP69B	SO:0001819	synonymous_variant	0			-	HGNC	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.552C>T	1.37:g.40928208C>T		Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q5QPL4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.S184	ENST00000411995.2	37	c.552	CCDS452.2	1																																																																																			-	NULL		0.403	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP69B	protein_coding	OTTHUMT00000019078.2	C	NM_023070	-		40928208	+1	no_errors	ENST00000411995	ensembl	human	known	74_37	silent	SNP	0.010	T
CYP4F8	11283	genome.wustl.edu	37	19	15739173	15739173	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:15739173C>T	ENST00000441682.2	+	0	1238							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						icosanoid metabolic process (GO:0006690)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alkane 1-monooxygenase activity (GO:0018685)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCGGTTGCATCCCCCAATCCC	0.612																																																	0								ENSG00000186526						77.0	86.0	83.0					19																	15739173		2203	4300	6503	CYP4F8			0			-	HGNC	AF133298	CCDS74303.1	19p13.12	2013-11-11	2003-01-14		ENSG00000186526	ENSG00000186526		"""Cytochrome P450s"""	2648	protein-coding gene	gene with protein product		611545	"""cytochrome P450, subfamily IVF, polypeptide 8"""			10405341	Standard	NM_007253		Approved		uc002nbi.3	P98187	OTTHUMG00000182386		19.37:g.15739173C>T		Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000441682.2	37	NULL		19	.	.	.	.	.	.	.	.	.	.	.	14.05	2.418567	0.42918	.	.	ENSG00000186526	ENST00000441682;ENST00000325723;ENST00000443973	.	.	.	3.45	3.45	0.39498	.	0.230079	0.37261	U	0.002175	T	0.51517	0.1679	.	.	.	0.33192	D	0.551045	P;P	0.39424	0.502;0.673	B;B	0.43950	0.437;0.437	T	0.66897	-0.5807	7	0.49607	T	0.09	.	12.4524	0.55684	0.0:1.0:0.0:0.0	.	205;393	B4DU85;P98187	.;CP4F8_HUMAN	S	392;205;242	.	ENSP00000314398:P205S	P	+	1	0	CYP4F8	15600173	0.945000	0.32115	0.080000	0.20451	0.018000	0.09664	1.323000	0.33701	1.753000	0.51906	0.543000	0.68304	CCC	-	-		0.612	CYP4F8-201	KNOWN	basic	processed_transcript	CYP4F8	processed_transcript		C	NM_007253	-		15739173	+1	no_errors	ENST00000325723	ensembl	human	known	74_37	rna	SNP	0.978	T
ZNF548	147694	genome.wustl.edu	37	19	57908563	57908563	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:57908563C>T	ENST00000366197.5	+	2	392				AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Intron|AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Nonsense_Mutation_p.Q67*|ZNF548_ENST00000597400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACACTTGCCCAGTGTCCTGG	0.537																																																	0								ENSG00000188785						371.0	335.0	347.0					19																	57908563		2203	4300	6503	ZNF548	SO:0001627	intron_variant	0			-	HGNC	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.142+21C>T	19.37:g.57908563C>T		Somatic	0	106	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65	Q96M05	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.Q67*	ENST00000366197.5	37	c.199	CCDS46209.1	19																																																																																			-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.537	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	protein_coding	OTTHUMT00000465937.1	C	NM_152909	-		57908563	+1	no_errors	ENST00000598895	ensembl	human	putative	74_37	nonsense	SNP	0.000	T
NDUFB2	4708	genome.wustl.edu	37	7	140402735	140402735	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:140402735C>T	ENST00000476279.1	+	2	242	c.168C>T	c.(166-168)ttC>ttT	p.F56F	NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000471136.1_Silent_p.F44F|NDUFB2_ENST00000204307.5_Silent_p.F46F|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000465506.1_Silent_p.F56F|NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000475276.1_Silent_p.F29F|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000247866.4_Silent_p.F56F			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	56					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)					CCCAGGTGTTCCAGAGCGAGT	0.542																																																	0								ENSG00000090266						177.0	172.0	174.0					7																	140402735		2203	4300	6503	NDUFB2	SO:0001819	synonymous_variant	0			-	HGNC	AF050639	CCDS5862.1	7q34	2011-07-04	2002-08-29		ENSG00000090266	ENSG00000090266		"""Mitochondrial respiratory chain complex / Complex I"""	7697	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase AGGG subunit"", ""complex I AGGG subunit"""	603838	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2 (8kD, AGGG)"""			9763677, 9878551	Standard	NM_004546		Approved	AGGG, CI-AGGG	uc003vwa.3	O95178	OTTHUMG00000157424	ENST00000476279.1:c.168C>T	7.37:g.140402735C>T		Somatic	0	99	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	Q6FGI6	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.F56	ENST00000476279.1	37	c.168	CCDS5862.1	7																																																																																			-	NULL		0.542	NDUFB2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	NDUFB2	protein_coding	OTTHUMT00000348784.1	C	NM_004546	-		140402735	+1	no_errors	ENST00000247866	ensembl	human	known	74_37	silent	SNP	0.000	T
TONSL	4796	genome.wustl.edu	37	8	145666390	145666390	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:145666390C>T	ENST00000409379.3	-	8	999	c.970G>A	c.(970-972)Gca>Aca	p.A324T	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	324					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AAGTCTCCTGCCTTGGAGAAG	0.642																																																	0								ENSG00000160949						97.0	94.0	95.0					8																	145666390		2203	4300	6503	TONSL	SO:0001583	missense	0			-	HGNC		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.970G>A	8.37:g.145666390C>T	ENSP00000386239:p.Ala324Thr	Somatic	0	139	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	60	27.71	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A324T	ENST00000409379.3	37	c.970	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	11.45	1.641233	0.29157	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.77489	-1.1	5.45	4.49	0.54785	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181068	0.48286	D	0.000189	T	0.71736	0.3375	L	0.56769	1.78	0.27829	N	0.94153	P	0.42456	0.78	B	0.38106	0.265	T	0.66356	-0.5944	10	0.20046	T	0.44	-12.1521	14.52	0.67844	0.1567:0.8433:0.0:0.0	.	324	Q96HA7	TONSL_HUMAN	T	324	ENSP00000386239:A324T	ENSP00000386239:A324T	A	-	1	0	TONSL	145637198	0.992000	0.36948	0.993000	0.49108	0.506000	0.33950	2.684000	0.46951	2.570000	0.86706	0.561000	0.74099	GCA	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.642	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	C	NM_013432	-		145666390	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	SNP	0.988	T
VWF	7450	genome.wustl.edu	37	12	6078495	6078495	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:6078495C>T	ENST00000261405.5	-	45	7865	c.7611G>A	c.(7609-7611)aaG>aaA	p.K2537K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2537					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGACCTCCTCCTTCACTCGGA	0.602																																																	0								ENSG00000110799						59.0	59.0	59.0					12																	6078495		2203	4300	6503	VWF	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7611G>A	12.37:g.6078495C>T		Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67	Q8TCE8|Q99806	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.K2537	ENST00000261405.5	37	c.7611	CCDS8539.1	12																																																																																			-	pirsf_VWF		0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	protein_coding	OTTHUMT00000399020.1	C	NM_000552	-		6078495	-1	no_errors	ENST00000261405	ensembl	human	known	74_37	silent	SNP	1.000	T
AP1G2	8906	genome.wustl.edu	37	14	24033590	24033590	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24033590G>C	ENST00000308724.5	-	9	1684	c.929C>G	c.(928-930)gCt>gGt	p.A310G	AP1G2_ENST00000397120.3_Missense_Mutation_p.A310G|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'Flank	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	310					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		AATGTTGACAGCTAGAACCTA	0.522																																																	0								ENSG00000213983						137.0	113.0	121.0					14																	24033590		2203	4300	6503	AP1G2	SO:0001583	missense	0			-	HGNC	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.929C>G	14.37:g.24033590G>C	ENSP00000312442:p.Ala310Gly	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	D3DS51|O75504	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP1_complex_gsu,pfscan_Clathrin_g-adaptin_app	p.A310G	ENST00000308724.5	37	c.929	CCDS9602.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439830	0.83885	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.14766	2.48;2.48	4.38	4.38	0.52667	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.27731	0.0682	L	0.51422	1.61	0.80722	D	1	P;D	0.55605	0.892;0.972	D;P	0.63597	0.916;0.887	T	0.00926	-1.1512	10	0.28530	T	0.3	-7.7844	14.4989	0.67707	0.0:0.0:1.0:0.0	.	310;165	O75843;Q86V28	AP1G2_HUMAN;.	G	310;310;79;165	ENSP00000312442:A310G;ENSP00000380309:A310G	ENSP00000312442:A310G	A	-	2	0	AP1G2	23103430	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	8.234000	0.89801	2.269000	0.75478	0.557000	0.71058	GCT	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP1_complex_gsu		0.522	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1G2	protein_coding	OTTHUMT00000071812.4	G	NM_003917	-		24033590	-1	no_errors	ENST00000308724	ensembl	human	known	74_37	missense	SNP	1.000	C
CCDC88B	283234	genome.wustl.edu	37	11	64111796	64111796	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:64111796A>G	ENST00000356786.5	+	14	1827	c.1783A>G	c.(1783-1785)Aga>Gga	p.R595G	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	595						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTGGCCGTAGATCCTCTCT	0.637																																																	0								ENSG00000168071						34.0	38.0	37.0					11																	64111796		2201	4297	6498	CCDC88B	SO:0001583	missense	0			-	HGNC	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.1783A>G	11.37:g.64111796A>G	ENSP00000349238:p.Arg595Gly	Somatic	0	114	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	44	37.14	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hook-related_fam	p.R595G	ENST00000356786.5	37	c.1783	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	a	8.721	0.914389	0.17907	.	.	ENSG00000168071	ENST00000377638;ENST00000356786	T	0.26223	1.75	3.78	0.411	0.16392	.	.	.	.	.	T	0.09468	0.0233	N	0.02916	-0.46	0.19300	N	0.999971	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.36696	-0.9737	9	0.22706	T	0.39	.	6.9396	0.24486	0.5711:0.0:0.4289:0.0	.	595;244;595	B2RTU8;A6NC98-3;A6NC98	.;.;CC88B_HUMAN	G	595	ENSP00000349238:R595G	ENSP00000349238:R595G	R	+	1	2	CCDC88B	63868372	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	0.667000	0.25112	-0.043000	0.13513	-0.484000	0.04775	AGA	-	NULL		0.637	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	protein_coding	OTTHUMT00000104845.1	A	NM_032251	-		64111796	+1	no_errors	ENST00000356786	ensembl	human	known	74_37	missense	SNP	0.004	G
HINFP	25988	genome.wustl.edu	37	11	119002250	119002250	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:119002250C>T	ENST00000350777.2	+	4	480	c.417C>T	c.(415-417)tcC>tcT	p.S139S	HINFP_ENST00000527354.1_3'UTR|HINFP_ENST00000527410.1_Silent_p.S139S	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	139					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CACAGAATTCCTTCGACAATC	0.537																																																	0								ENSG00000172273						133.0	110.0	118.0					11																	119002250		2200	4295	6495	HINFP	SO:0001819	synonymous_variant	0			-	HGNC	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.417C>T	11.37:g.119002250C>T		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S139	ENST00000350777.2	37	c.417	CCDS8414.1	11																																																																																			-	smart_Znf_C2H2-like		0.537	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HINFP	protein_coding	OTTHUMT00000388201.2	C	NM_015517	-		119002250	+1	no_errors	ENST00000350777	ensembl	human	known	74_37	silent	SNP	0.982	T
RXFP2	122042	genome.wustl.edu	37	13	32332451	32332451	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:32332451C>T	ENST00000298386.2	+	2	222	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	RXFP2_ENST00000380314.1_Missense_Mutation_p.P51S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	51	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oocyte maturation (GO:0001556)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein-hormone receptor activity (GO:0016500)			cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AGGATATTTTCCCTGTGGGAA	0.478																																																	0								ENSG00000133105						178.0	166.0	170.0					13																	32332451		2203	4300	6503	RXFP2	SO:0001583	missense	0			-	HGNC	AF403384	CCDS9342.1, CCDS53862.1	13q12.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000133105	ENSG00000133105		"""GPCR / Class A : Relaxin family peptide receptors"""	17318	protein-coding gene	gene with protein product		606655	"""leucine-rich repeat-containing G protein-coupled receptor 8"""	LGR8		12217959, 12970298, 15956688, 16507880	Standard	NM_130806		Approved	GREAT, GPR106, INSL3R, RXFPR2	uc001utt.3	Q8WXD0	OTTHUMG00000016690	ENST00000298386.2:c.151C>T	13.37:g.32332451C>T	ENSP00000298386:p.Pro51Ser	Somatic	0	82	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	B1ALE9|Q3KU23	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam	p.P51S	ENST00000298386.2	37	c.151	CCDS9342.1	13	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579404	0.86645	.	.	ENSG00000133105	ENST00000380314;ENST00000298386	D;D	0.95069	-3.6;-3.6	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.94032	0.8088	N	0.25286	0.73	0.58432	D	0.999995	P;D	0.54601	0.927;0.967	P;P	0.58391	0.759;0.838	D	0.94650	0.7838	10	0.59425	D	0.04	.	17.131	0.86726	0.0:1.0:0.0:0.0	.	51;51	Q3KU23;Q8WXD0	.;RXFP2_HUMAN	S	51	ENSP00000369670:P51S;ENSP00000298386:P51S	ENSP00000298386:P51S	P	+	1	0	RXFP2	31230451	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.512000	0.73737	2.651000	0.90000	0.644000	0.83932	CCC	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_Relaxin_rcpt		0.478	RXFP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RXFP2	protein_coding	OTTHUMT00000044399.1	C	NM_130806	-		32332451	+1	no_errors	ENST00000298386	ensembl	human	known	74_37	missense	SNP	1.000	T
LRRC37A3	374819	genome.wustl.edu	37	17	62851978	62851978	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:62851978T>G	ENST00000584306.1	-	13	5369	c.4839A>C	c.(4837-4839)gaA>gaC	p.E1613D	LRRC37A3_ENST00000319651.5_Missense_Mutation_p.E1613D|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.E651D|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.E590D|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.E731D	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1613						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CTTCTTCATCTTCTTGTAATG	0.373																																																	0								ENSG00000176809						119.0	129.0	126.0					17																	62851978		1511	2706	4217	LRRC37A3	SO:0001583	missense	0			-	HGNC	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.4839A>C	17.37:g.62851978T>G	ENSP00000464535:p.Glu1613Asp	Somatic	0	139	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	50	20.63	Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E1613D	ENST00000584306.1	37	c.4839	CCDS32708.1	17	.	.	.	.	.	.	.	.	.	.	T	8.312	0.822274	0.16678	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.46451	0.87;0.87;0.87	1.67	1.67	0.24075	.	.	.	.	.	T	0.38374	0.1038	N	0.25647	0.755	0.09310	N	1	P;P	0.46912	0.882;0.886	B;P	0.57776	0.332;0.827	T	0.21552	-1.0242	9	0.15066	T	0.55	.	5.4345	0.16474	0.0:0.0:0.0:1.0	.	731;1613	B4DG20;O60309	.;L37A3_HUMAN	D	694;651;590;1613	ENSP00000383674:E651D;ENSP00000335617:E590D;ENSP00000325713:E1613D	ENSP00000325713:E1613D	E	-	3	2	LRRC37A3	60282440	0.000000	0.05858	0.005000	0.12908	0.103000	0.19146	-0.744000	0.04839	1.025000	0.39708	0.136000	0.15936	GAA	-	NULL		0.373	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A3	protein_coding	OTTHUMT00000445377.1	T	NM_199340	-		62851978	-1	no_errors	ENST00000319651	ensembl	human	known	74_37	missense	SNP	0.013	G
TCERG1	10915	genome.wustl.edu	37	5	145883505	145883505	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:145883505G>T	ENST00000296702.5	+	18	2704	c.2666G>T	c.(2665-2667)cGa>cTa	p.R889L	TCERG1_ENST00000509787.1_3'UTR|TCERG1_ENST00000394421.2_Missense_Mutation_p.R868L	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	889					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAATAGATCGAGAGAGAGAG	0.418																																																	0								ENSG00000113649						104.0	108.0	107.0					5																	145883505		2203	4300	6503	TCERG1	SO:0001583	missense	0			-	HGNC	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.2666G>T	5.37:g.145883505G>T	ENSP00000296702:p.Arg889Leu	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	Q2NKN2|Q59EA1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R889L	ENST00000296702.5	37	c.2666	CCDS4282.1	5	.	.	.	.	.	.	.	.	.	.	G	36	5.732821	0.96856	.	.	ENSG00000113649	ENST00000296702;ENST00000394421	T;T	0.26373	1.74;1.74	5.6	5.6	0.85130	FF domain (2);	0.000000	0.85682	D	0.000000	T	0.49064	0.1535	L	0.54323	1.7	0.80722	D	1	P;D	0.63880	0.881;0.993	P;D	0.74023	0.7;0.982	T	0.32241	-0.9914	10	0.52906	T	0.07	-9.6022	19.9855	0.97347	0.0:0.0:1.0:0.0	.	868;889	O14776-2;O14776	.;TCRG1_HUMAN	L	889;868	ENSP00000296702:R889L;ENSP00000377943:R868L	ENSP00000296702:R889L	R	+	2	0	TCERG1	145863698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.603000	0.98315	2.806000	0.96561	0.655000	0.94253	CGA	-	superfamily_FF_domain		0.418	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCERG1	protein_coding	OTTHUMT00000251886.1	G	NM_001040006	-		145883505	+1	no_errors	ENST00000296702	ensembl	human	known	74_37	missense	SNP	1.000	T
KLHL18	23276	genome.wustl.edu	37	3	47374754	47374754	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:47374754C>T	ENST00000232766.5	+	5	728	c.708C>T	c.(706-708)ttC>ttT	p.F236F	KLHL18_ENST00000455924.2_Silent_p.F124F	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	236	BACK.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GGCCCCAGTTCCTTTCAGACA	0.592																																																	0								ENSG00000114648						74.0	66.0	69.0					3																	47374754		2203	4300	6503	KLHL18	SO:0001819	synonymous_variant	0			-	HGNC	AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.708C>T	3.37:g.47374754C>T		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	34	46.03	A8K612|Q7Z3E8|Q8N125	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F236	ENST00000232766.5	37	c.708	CCDS33749.1	3																																																																																			-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.592	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	protein_coding	OTTHUMT00000344493.1	C	NM_025010	-		47374754	+1	no_errors	ENST00000232766	ensembl	human	known	74_37	silent	SNP	1.000	T
GPR156	165829	genome.wustl.edu	37	3	119887100	119887100	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:119887100C>T	ENST00000464295.1	-	10	1669	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	GPR156_ENST00000315843.3_Silent_p.K408K|GPR156_ENST00000461057.1_Silent_p.K404K			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	408						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCTGGACGTCCTTGTTCGGGG	0.602																																																	0								ENSG00000175697						29.0	35.0	33.0					3																	119887100		2203	4299	6502	GPR156	SO:0001819	synonymous_variant	0			-	HGNC	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1224G>A	3.37:g.119887100C>T		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.K408	ENST00000464295.1	37	c.1224	CCDS2997.1	3																																																																																			-	NULL		0.602	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	protein_coding	OTTHUMT00000355139.1	C	NM_153002	-		119887100	-1	no_errors	ENST00000315843	ensembl	human	known	74_37	silent	SNP	0.000	T
CDS1	1040	genome.wustl.edu	37	4	85525423	85525423	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:85525423G>A	ENST00000295887.5	+	2	568	c.145G>A	c.(145-147)Gat>Aat	p.D49N		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0					cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		CAGATATGGAGATTTGGATTC	0.348																																																	0								ENSG00000163624						88.0	90.0	89.0					4																	85525423		2203	4300	6503	CDS1	SO:0001583	missense	0			-	HGNC	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.145G>A	4.37:g.85525423G>A	ENSP00000295887:p.Asp49Asn	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	25	21.88	A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PC_trans,pirsf_PC_Trfase_euk	p.D49N	ENST00000295887.5	37	c.145	CCDS3608.1	4	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683246	0.68157	.	.	ENSG00000163624	ENST00000295887	T	0.47177	0.85	5.68	5.68	0.88126	.	0.051656	0.85682	D	0.000000	T	0.36166	0.0957	N	0.24115	0.695	0.53688	D	0.999972	B	0.23377	0.084	B	0.25759	0.063	T	0.11717	-1.0576	10	0.19590	T	0.45	-17.4226	16.7091	0.85380	0.0:0.0:1.0:0.0	.	49	Q92903	CDS1_HUMAN	N	49	ENSP00000295887:D49N	ENSP00000295887:D49N	D	+	1	0	CDS1	85744447	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.390000	0.73204	2.693000	0.91896	0.655000	0.94253	GAT	-	pirsf_PC_Trfase_euk		0.348	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDS1	protein_coding	OTTHUMT00000252817.2	G		-		85525423	+1	no_errors	ENST00000295887	ensembl	human	known	74_37	missense	SNP	1.000	A
SNAPC5	10302	genome.wustl.edu	37	15	66789961	66789961	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:66789961G>A	ENST00000316634.5	-	1	172				SNAPC5_ENST00000307979.7_Intron|SNAPC5_ENST00000563480.2_Intron|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000395589.2_Intron|SNAPC5_ENST00000566658.1_Missense_Mutation_p.P37S			O75971	SNPC5_HUMAN	small nuclear RNA activating complex, polypeptide 5, 19kDa						gene expression (GO:0010467)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)	2						GGAGGGGCAGGAGAGGGCCGC	0.657											OREG0023204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000174446						55.0	55.0	55.0					15																	66789961		2201	4299	6500	SNAPC5	SO:0001627	intron_variant	0			-	HGNC	AF093593	CCDS10217.1	15q22	2010-07-08	2002-08-29		ENSG00000174446	ENSG00000174446			15484	protein-coding gene	gene with protein product		605979	"""small nuclear RNA activating complex, polypeptide 5, 19kD"""			9732265	Standard	NM_006049		Approved	SNAP19	uc002apt.1	O75971	OTTHUMG00000133195	ENST00000316634.5:c.90+18C>T	15.37:g.66789961G>A		Somatic	0	275	0.00	1094	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	112	23.29	A8K7N6|Q96CF3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P37S	ENST00000316634.5	37	c.109	CCDS10217.1	15																																																																																			-	NULL		0.657	SNAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC5	protein_coding	OTTHUMT00000256905.2	G		-		66789961	-1	no_errors	ENST00000565465	ensembl	human	known	74_37	missense	SNP	0.000	A
CELF3	11189	genome.wustl.edu	37	1	151688321	151688321	+	Intron	SNP	C	C	T	rs372291437		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:151688321C>T	ENST00000290583.4	-	1	939				CELF3_ENST00000290585.4_Intron|RIIAD1_ENST00000326413.3_Intron|AL589765.1_ENST00000442233.2_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CAGCCCACCCCGAAGCCTCTT	0.592																																																	0								ENSG00000159409						57.0	59.0	58.0					1																	151688321		2203	4300	6503	CELF3	SO:0001627	intron_variant	0			-	HGNC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.145+30G>A	1.37:g.151688321C>T		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000290583.4	37	NULL	CCDS1002.1	1																																																																																			-	-		0.592	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	protein_coding	OTTHUMT00000036663.2	C	NM_007185	-		151688321	-1	no_errors	ENST00000478829	ensembl	human	known	74_37	rna	SNP	0.018	T
ZNF222	7673	genome.wustl.edu	37	19	44536292	44536292	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:44536292T>C	ENST00000187879.8	+	4	627	c.465T>C	c.(463-465)tgT>tgC	p.C155C	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Silent_p.C195C	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AAAGCTTCTGTTACATCTCAG	0.423																																																	0								ENSG00000159885						157.0	163.0	161.0					19																	44536292		2203	4300	6503	ZNF222	SO:0001819	synonymous_variant	0			-	HGNC	AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.465T>C	19.37:g.44536292T>C		Somatic	1	103	0.96		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	52	22.39	G5E9B9|Q8N6G7|Q9P1U5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C195	ENST00000187879.8	37	c.585	CCDS33045.1	19																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	protein_coding	OTTHUMT00000460465.2	T		-		44536292	+1	no_errors	ENST00000391960	ensembl	human	known	74_37	silent	SNP	0.000	C
RIPK3	11035	genome.wustl.edu	37	14	24809177	24809177	+	5'UTR	SNP	C	C	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24809177C>G	ENST00000216274.5	-	0	74				RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3						activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		AGTCTACTTTCCGGGTTGTTA	0.577																																					Pancreas(58;918 1191 4668 13304 15331)												0								ENSG00000129465																																			RIPK3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.-145G>C	14.37:g.24809177C>G		Somatic	0	27	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000216274.5	37	NULL	CCDS9628.1	14																																																																																			-	-		0.577	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	protein_coding	OTTHUMT00000073203.4	C	NM_006871	-		24809177	-1	no_errors	ENST00000554338	ensembl	human	known	74_37	rna	SNP	0.002	G
PLA2G5	5322	genome.wustl.edu	37	1	20395415	20395415	+	5'Flank	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:20395415C>T	ENST00000375108.3	+	0	0				PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V						arachidonic acid secretion (GO:0050482)|glycerophospholipid biosynthetic process (GO:0046474)|leukotriene biosynthetic process (GO:0019370)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|heparin binding (GO:0008201)			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		CGTCCTTCTCCAACACAGCAG	0.488																																																	0								ENSG00000127472																																			PLA2G5	SO:0001631	upstream_gene_variant	0			-	HGNC	U03090	CCDS202.1	1p36-p34	2008-09-19			ENSG00000127472	ENSG00000127472	3.1.1.4		9038	protein-coding gene	gene with protein product		601192				8838795, 8300559	Standard	NM_000929		Approved		uc001bcy.3	P39877	OTTHUMG00000002698		1.37:g.20395415C>T	Exception_encountered	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q8N435	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000375108.3	37	NULL	CCDS202.1	1																																																																																			-	-		0.488	PLA2G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G5	protein_coding	OTTHUMT00000007668.1	C	NM_000929	-		20395415	+1	no_errors	ENST00000460175	ensembl	human	known	74_37	rna	SNP	0.069	T
TRPM1	4308	genome.wustl.edu	37	15	31294646	31294646	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:31294646G>A	ENST00000256552.6	-	28	4404	c.4257C>T	c.(4255-4257)aaC>aaT	p.N1419N	TRPM1_ENST00000397795.2_Silent_p.N1397N|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.N1436N	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTAGCTGAGTGTTTTGAACAT	0.368																																																	0								ENSG00000134160						176.0	164.0	168.0					15																	31294646		1879	4112	5991	TRPM1	SO:0001819	synonymous_variant	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.4257C>T	15.37:g.31294646G>A		Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	33	22.73		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom	p.N1436	ENST00000256552.6	37	c.4308	CCDS58346.1	15																																																																																			-	NULL		0.368	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	G	NM_002420	-		31294646	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	SNP	0.720	A
SORBS1	10580	genome.wustl.edu	37	10	97099064	97099064	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:97099064G>A	ENST00000361941.3	-	27	2717	c.2691C>T	c.(2689-2691)ctC>ctT	p.L897L	SORBS1_ENST00000371227.4_Silent_p.L851L|SORBS1_ENST00000371249.2_Silent_p.L679L|SORBS1_ENST00000371245.3_Silent_p.L748L|SORBS1_ENST00000353505.5_Silent_p.L748L|SORBS1_ENST00000607232.1_Silent_p.L1157L|SORBS1_ENST00000371247.2_Silent_p.L897L|SORBS1_ENST00000347291.4_Silent_p.L709L|SORBS1_ENST00000474353.2_5'Flank|SORBS1_ENST00000277982.5_Silent_p.L919L|SORBS1_ENST00000393949.1_Silent_p.L867L|SORBS1_ENST00000371241.1_Silent_p.L547L|SORBS1_ENST00000371239.1_Silent_p.L674L|SORBS1_ENST00000354106.3_Silent_p.L867L|SORBS1_ENST00000306402.6_Silent_p.L644L|SORBS1_ENST00000371246.2_Silent_p.L919L	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTACCTGCCGGAGCAGTGTGA	0.572																																																	0								ENSG00000095637						161.0	148.0	152.0					10																	97099064		2203	4300	6503	SORBS1	SO:0001819	synonymous_variant	0			-	HGNC	AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.2691C>T	10.37:g.97099064G>A		Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain	p.L1157	ENST00000361941.3	37	c.3471	CCDS31255.1	10																																																																																			-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain		0.572	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	protein_coding	OTTHUMT00000049517.1	G		-		97099064	-1	no_errors	ENST00000607232	ensembl	human	known	74_37	silent	SNP	0.996	A
ALDH9A1	223	genome.wustl.edu	37	1	165649754	165649754	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:165649754G>A	ENST00000354775.4	-	5	1063	c.759C>T	c.(757-759)tcC>tcT	p.S253S	ALDH9A1_ENST00000538148.1_Silent_p.S159S|ALDH9A1_ENST00000461664.1_5'UTR	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	229					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TTCCAGTGAAGGAGACTTTGG	0.547																																					Ovarian(179;1583 2014 18106 33801 42447)												0								ENSG00000143149						150.0	143.0	145.0					1																	165649754		2203	4300	6503	ALDH9A1	SO:0001819	synonymous_variant	0			-	HGNC	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.759C>T	1.37:g.165649754G>A		Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.S253	ENST00000354775.4	37	c.759	CCDS1250.2	1																																																																																			-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.547	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	protein_coding	OTTHUMT00000083899.1	G		-		165649754	-1	no_errors	ENST00000354775	ensembl	human	known	74_37	silent	SNP	0.996	A
KAT2A	2648	genome.wustl.edu	37	17	40273156	40273156	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:40273156C>T	ENST00000225916.5	-	1	220	c.167G>A	c.(166-168)gGc>gAc	p.G56D	HSPB9_ENST00000355067.3_5'Flank|CTD-2132N18.3_ENST00000592574.1_Intron	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	56					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCCTGTGCTGCCggctggggc	0.756																																																	0								ENSG00000108773						1.0	2.0	1.0					17																	40273156		854	2124	2978	KAT2A	SO:0001583	missense	0			-	HGNC	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.167G>A	17.37:g.40273156C>T	ENSP00000225916:p.Gly56Asp	Somatic	0	20	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain	p.G56D	ENST00000225916.5	37	c.167	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887729	0.52014	.	.	ENSG00000108773	ENST00000225916	T	0.04917	3.53	5.14	4.17	0.49024	.	0.490245	0.21853	N	0.068146	T	0.05640	0.0148	L	0.36672	1.1	0.41152	D	0.986036	B	0.15141	0.012	B	0.16289	0.015	T	0.34378	-0.9831	10	0.18710	T	0.47	-23.4945	10.2191	0.43186	0.0:0.9067:0.0:0.0933	.	56	Q92830	KAT2A_HUMAN	D	56	ENSP00000225916:G56D	ENSP00000225916:G56D	G	-	2	0	KAT2A	37526682	0.981000	0.34729	1.000000	0.80357	0.786000	0.44442	0.746000	0.26275	2.393000	0.81446	0.561000	0.74099	GGC	-	pirsf_Hist_acetylase_PCAF		0.756	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	protein_coding	OTTHUMT00000257458.1	C	NM_021078	-		40273156	-1	no_errors	ENST00000225916	ensembl	human	known	74_37	missense	SNP	1.000	T
IL18R1	8809	genome.wustl.edu	37	2	103003460	103003460	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:103003460G>A	ENST00000409599.1	+	9	1305	c.949G>A	c.(949-951)Gca>Aca	p.A317T	IL18R1_ENST00000233957.1_Splice_Site_p.A317T			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	317			Missing. {ECO:0000269|PubMed:8626725}.		immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GGTGAGAAAAGGTGAGAAAGA	0.383																																																	0								ENSG00000115604						97.0	100.0	99.0					2																	103003460		2203	4300	6503	IL18R1	SO:0001630	splice_region_variant	0			-	HGNC	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.949+1G>A	2.37:g.103003460G>A		Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	B2R9Y5|Q52LC9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I/II-typ	p.A317T	ENST00000409599.1	37	c.949	CCDS2060.1	2	.	.	.	.	.	.	.	.	.	.	G	7.126	0.578829	0.13686	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.01560	4.77;4.77;4.77	4.66	2.84	0.33178	.	1.312560	0.05628	N	0.581154	T	0.01558	0.0050	N	0.19112	0.55	0.80722	D	1	B	0.29716	0.255	B	0.26614	0.071	T	0.49485	-0.8935	10	0.15066	T	0.55	.	7.4274	0.27107	0.2002:0.0:0.7998:0.0	.	317	Q13478	IL18R_HUMAN	T	317	ENSP00000386663:A317T;ENSP00000387211:A317T;ENSP00000233957:A317T	ENSP00000233957:A317T	A	+	1	0	IL18R1	102369892	1.000000	0.71417	0.972000	0.41901	0.459000	0.32528	1.973000	0.40550	0.691000	0.31592	0.561000	0.74099	GCA	-	NULL		0.383	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL18R1	protein_coding	OTTHUMT00000253294.2	G	NM_003855	-	Missense_Mutation	103003460	+1	no_errors	ENST00000233957	ensembl	human	known	74_37	missense	SNP	0.994	A
XIRP2	129446	genome.wustl.edu	37	2	167760013	167760013	+	Silent	SNP	C	C	T	rs373936387		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:167760013C>T	ENST00000409728.1	+	2	110	c.21C>T	c.(19-21)ggC>ggT	p.G7G	XIRP2_ENST00000409043.1_Silent_p.G7G|XIRP2_ENST00000409756.2_Silent_p.G7G|XIRP2_ENST00000409195.1_Silent_p.G7G|XIRP2_ENST00000295237.9_Silent_p.G7G|XIRP2_ENST00000420519.1_Silent_p.G7G	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGCAGAAGGGCTCCCTCAACC	0.463																																																	0								ENSG00000163092	C	,,	1,3825		0,1,1912	70.0	68.0	69.0		21,21,21	-3.2	1.0	2		69	5,8269		0,5,4132	no	coding-synonymous,coding-synonymous,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_152381.5	,,	0,6,6044	TT,TC,CC		0.0604,0.0261,0.0496	,,	7/939,7/972,7/3550	167760013	6,12094	1913	4137	6050	XIRP2	SO:0001819	synonymous_variant	0			-	HGNC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.21C>T	2.37:g.167760013C>T		Somatic	0	25	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-binding_Xin_repeat	p.G7	ENST00000409728.1	37	c.21	CCDS56143.1	2																																																																																			-	NULL		0.463	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333552.1	C	NM_152381	-		167760013	+1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	SNP	0.962	T
SYN2	6854	genome.wustl.edu	37	3	12228961	12228972	+	RNA	DEL	TCTTCCTCCTCT	TCTTCCTCCTCT	-	rs138835839|rs368520291|rs59427025	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	TCTTCCTCCTCT	TCTTCCTCCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:12228961_12228972delTCTTCCTCCTCT	ENST00000432424.2	+	0	7794							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						ACcttcctcctcttcctcctcttcttcctcct	0.698														106	0.0211661	0.0008	0.0303	5008	,	,		14772	0.003		0.0497	False		,,,				2504	0.0317																0								ENSG00000157152			35,3593		6,23,1785						3.0	1.0		dbSNP_129	11	294,7306		35,224,3541	no	coding	SYN2	NM_133625.3		41,247,5326	A1A1,A1R,RR		3.8684,0.9647,2.9302				329,10899				SYN2			0				HGNC		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12228961_12228972delTCTTCCTCCTCT		Somatic	NA	NA	NA		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MY98	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000432424.2	37	NULL		3																																																																																			-	-		0.698	SYN2-002	KNOWN	basic	processed_transcript	SYN2	processed_transcript	OTTHUMT00000339528.3	TCTTCCTCCTCT	NM_133625			12228972	+1	no_errors	ENST00000426379	ensembl	human	known	74_37	rna	DEL	1.000:0.996:0.365:0.980:1.000:1.000:1.000:1.000:1.000:0.994:0.994:0.904	-
NOTCH1	4851	genome.wustl.edu	37	9	139417640	139417640	+	Splice_Site	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139417640C>A	ENST00000277541.6	-	4	479	c.404G>T	c.(403-405)gGg>gTg	p.G135V	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	135	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCACGATTTCCCTGGAGACAA	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0								ENSG00000148400						16.0	20.0	18.0					9																	139417640		2074	4187	6261	NOTCH1	SO:0001630	splice_region_variant	0			-	HGNC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.404-1G>T	9.37:g.139417640C>A		Somatic	0	99	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	55	23.61	Q59ED8|Q5SXM3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.G135V	ENST00000277541.6	37	c.404	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004123	0.74932	.	.	ENSG00000148400	ENST00000277541	D	0.99121	-5.45	5.17	5.17	0.71159	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99566	0.9844	H	0.96604	3.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97859	1.0279	10	0.87932	D	0	.	17.6469	0.88151	0.0:1.0:0.0:0.0	.	135	P46531	NOTC1_HUMAN	V	135	ENSP00000277541:G135V	ENSP00000277541:G135V	G	-	2	0	NOTCH1	138537461	1.000000	0.71417	1.000000	0.80357	0.368000	0.29767	7.552000	0.82192	2.394000	0.81467	0.561000	0.74099	GGG	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617	-	Missense_Mutation	139417640	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	SNP	1.000	A
USP54	159195	genome.wustl.edu	37	10	75258372	75258372	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:75258372G>A	ENST00000339859.4	-	0	5170				RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|PPP3CB_ENST00000394828.2_5'Flank|USP54_ENST00000394811.2_3'UTR|USP54_ENST00000408019.1_3'UTR|USP54_ENST00000422491.2_3'UTR|RP11-137L10.6_ENST00000422977.1_RNA|PPP3CB_ENST00000545874.1_5'Flank|RP11-137L10.6_ENST00000600607.1_RNA|PPP3CB_ENST00000342558.3_5'Flank|RP11-137L10.6_ENST00000597958.1_RNA|PPP3CB_ENST00000360663.5_5'Flank|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000428547.1_3'UTR|PPP3CB_ENST00000394829.2_5'Flank|RP11-137L10.6_ENST00000600887.1_RNA|PPP3CB_ENST00000394822.2_5'Flank|RP11-137L10.6_ENST00000442133.4_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000595935.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54						ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTCCAGGAAAGGAAAGGAATA	0.527																																					Colon(195;880 2046 8854 25025 38456)												0								ENSG00000166348						95.0	95.0	95.0					10																	75258372		2203	4300	6503	USP54	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.*15C>T	10.37:g.75258372G>A		Somatic	0	28	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000339859.4	37	NULL	CCDS7329.2	10																																																																																			-	-		0.527	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	protein_coding	OTTHUMT00000316563.2	G	NM_152586	-		75258372	-1	no_errors	ENST00000497106	ensembl	human	known	74_37	rna	SNP	0.075	A
NOTCH1	4851	genome.wustl.edu	37	9	139417641	139417641	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139417641C>T	ENST00000277541.6	-	4	479		c.e4-1		NOTCH1_ENST00000491649.1_Splice_Site	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACGATTTCCCTGGAGACAAG	0.687			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0								ENSG00000148400						16.0	19.0	18.0					9																	139417641		2071	4188	6259	NOTCH1	SO:0001630	splice_region_variant	0			-	HGNC	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.404-1G>A	9.37:g.139417641C>T		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	56	23.29	Q59ED8|Q5SXM3	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e4-1	ENST00000277541.6	37	c.404-1	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822115	0.50739	.	.	ENSG00000148400	ENST00000277541	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6469	0.88151	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH1	138537462	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	7.576000	0.82467	2.394000	0.81467	0.561000	0.74099	.	-	-		0.687	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	protein_coding	OTTHUMT00000055087.1	C	NM_017617	-	Intron	139417641	-1	no_errors	ENST00000277541	ensembl	human	known	74_37	splice_site	SNP	1.000	T
SKIV2L	6499	genome.wustl.edu	37	6	31931480	31931480	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:31931480G>A	ENST00000375394.2	+	15	1730	c.1617G>A	c.(1615-1617)aaG>aaA	p.K539K	SKIV2L_ENST00000544581.1_Silent_p.K346K	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	539					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TTGGGGCCAAGCAGCCCACAC	0.567																																																	0								ENSG00000204351						40.0	40.0	40.0					6																	31931480		1511	2709	4220	SKIV2L	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1617G>A	6.37:g.31931480G>A		Somatic	0	19	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00	O15005|Q12902|Q15476|Q5ST66	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.K539	ENST00000375394.2	37	c.1617	CCDS4731.1	6																																																																																			-	superfamily_P-loop_NTPase,pirsf_RNA_helicase_ATP-dep_SK12/DOB1		0.567	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	protein_coding	OTTHUMT00000076264.3	G		-		31931480	+1	no_errors	ENST00000375394	ensembl	human	known	74_37	silent	SNP	0.999	A
PER1	5187	genome.wustl.edu	37	17	8046790	8046790	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:8046790G>A	ENST00000317276.4	-	19	3103	c.2866C>T	c.(2866-2868)Cca>Tca	p.P956S	PER1_ENST00000581082.1_Missense_Mutation_p.P933S|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	956	Pro-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCAAGGATGGAGAAGGGGAG	0.617			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0								ENSG00000179094						32.0	22.0	26.0					17																	8046790		2202	4300	6502	PER1	SO:0001583	missense	0			-	HGNC	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2866C>T	17.37:g.8046790G>A	ENSP00000314420:p.Pro956Ser	Somatic	0	86	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Period_circadian-like_C,pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.P956S	ENST00000317276.4	37	c.2866	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	G	11.28	1.591823	0.28357	.	.	ENSG00000179094	ENST00000317276	T	0.13778	2.56	5.47	4.5	0.54988	.	0.259857	0.37715	N	0.001962	T	0.10294	0.0252	N	0.25890	0.77	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11324	-1.0592	10	0.32370	T	0.25	-4.8769	11.7957	0.52098	0.0854:0.0:0.9146:0.0	.	956	O15534	PER1_HUMAN	S	956	ENSP00000314420:P956S	ENSP00000314420:P956S	P	-	1	0	PER1	7987515	1.000000	0.71417	0.159000	0.22649	0.203000	0.24098	4.629000	0.61290	1.319000	0.45190	0.467000	0.42956	CCA	-	NULL		0.617	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	protein_coding	OTTHUMT00000441481.2	G		-		8046790	-1	no_errors	ENST00000317276	ensembl	human	known	74_37	missense	SNP	0.542	A
SRRM2	23524	genome.wustl.edu	37	16	2812826	2812826	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:2812826G>A	ENST00000301740.8	+	11	2846	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	766	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCACCACGGTCCAAAGCA	0.498																																																	0								ENSG00000167978						136.0	140.0	138.0					16																	2812826		2198	4300	6498	SRRM2	SO:0001583	missense	0			-	HGNC	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2297G>A	16.37:g.2812826G>A	ENSP00000301740:p.Arg766Gln	Somatic	0	39	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	8	55.56	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_mRNA_splic_Cwf21	p.R766Q	ENST00000301740.8	37	c.2297	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	G	6.268	0.417566	0.11870	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27402	1.67	5.73	3.71	0.42584	.	0.239593	0.28624	N	0.014692	T	0.18045	0.0433	N	0.19112	0.55	0.19300	N	0.999976	B	0.25955	0.138	B	0.14578	0.011	T	0.16305	-1.0407	10	0.66056	D	0.02	-1.2783	8.0954	0.30824	0.0809:0.3084:0.6107:0.0	.	766	Q9UQ35	SRRM2_HUMAN	Q	766;766;18;731	ENSP00000301740:R766Q	ENSP00000301740:R766Q	R	+	2	0	SRRM2	2752827	0.001000	0.12720	0.719000	0.30619	0.709000	0.40893	0.587000	0.23909	0.724000	0.32296	-0.175000	0.13238	CGG	-	NULL		0.498	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	protein_coding	OTTHUMT00000436411.1	G		-		2812826	+1	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	SNP	0.507	A
PLA1A	51365	genome.wustl.edu	37	3	119325815	119325815	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:119325815G>A	ENST00000273371.4	+	2	340	c.268G>A	c.(268-270)Gga>Aga	p.G90R	PLA1A_ENST00000495992.1_Missense_Mutation_p.G90R|PLA1A_ENST00000488919.1_Intron|PLA1A_ENST00000494440.1_Missense_Mutation_p.G74R	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	90					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AATTATCCATGGATTCAGGTG	0.443																																																	0								ENSG00000144837						105.0	110.0	108.0					3																	119325815		2203	4300	6503	PLA1A	SO:0001583	missense	0			-	HGNC	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.268G>A	3.37:g.119325815G>A	ENSP00000273371:p.Gly90Arg	Somatic	0	28	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.G90R	ENST00000273371.4	37	c.268	CCDS2991.1	3	.	.	.	.	.	.	.	.	.	.	G	23.1	4.373678	0.82573	.	.	ENSG00000144837	ENST00000273371;ENST00000495992;ENST00000494440	D;D;D	0.99051	-5.37;-5.37;-5.37	4.67	4.67	0.58626	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99432	0.9799	M	0.93594	3.435	0.51233	D	0.999912	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98342	1.0539	10	0.87932	D	0	-12.1617	14.953	0.71088	0.0:0.0:1.0:0.0	.	90;90	Q53H76-3;Q53H76	.;PLA1A_HUMAN	R	90;90;74	ENSP00000273371:G90R;ENSP00000417326:G90R;ENSP00000418793:G74R	ENSP00000273371:G90R	G	+	1	0	PLA1A	120808505	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.672000	0.68102	2.595000	0.87683	0.655000	0.94253	GGA	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase		0.443	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA1A	protein_coding	OTTHUMT00000355252.2	G		-		119325815	+1	no_errors	ENST00000273371	ensembl	human	known	74_37	missense	SNP	1.000	A
PAFAH1B3	5050	genome.wustl.edu	37	19	42804233	42804233	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:42804233G>A	ENST00000262890.3	-	4	558	c.297C>T	c.(295-297)gtC>gtT	p.V99V	PRR19_ENST00000341747.3_5'Flank|PRR19_ENST00000598490.1_5'Flank|PAFAH1B3_ENST00000538771.1_Silent_p.V99V	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	99					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				TGCCCACCCAGACCACCACAA	0.597																																																	0								ENSG00000079462						107.0	100.0	102.0					19																	42804233		2203	4300	6503	PAFAH1B3	SO:0001819	synonymous_variant	0			-	HGNC	D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 1 subunit"""	603074	"""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)"", ""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"""			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.297C>T	19.37:g.42804233G>A		Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q53X88	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V99	ENST00000262890.3	37	c.297	CCDS12602.1	19																																																																																			-	NULL		0.597	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B3	protein_coding	OTTHUMT00000463726.1	G	NM_002573	-		42804233	-1	no_errors	ENST00000262890	ensembl	human	known	74_37	silent	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	167760079	167760079	+	Silent	SNP	G	G	A	rs368840398		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:167760079G>A	ENST00000409728.1	+	2	176	c.87G>A	c.(85-87)agG>agA	p.R29R	XIRP2_ENST00000409043.1_Silent_p.R29R|XIRP2_ENST00000409756.2_Silent_p.R29R|XIRP2_ENST00000409195.1_Silent_p.R29R|XIRP2_ENST00000295237.9_Silent_p.R29R|XIRP2_ENST00000420519.1_Silent_p.R29R	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTCATCCCAGGGACAGCCATT	0.498																																																	0								ENSG00000163092	G	,,	1,3867		0,1,1933	69.0	67.0	68.0		87,87,87	-1.6	0.0	2		68	0,8282		0,0,4141	no	coding-synonymous,coding-synonymous,coding-synonymous	XIRP2	NM_001079810.3,NM_001199143.1,NM_152381.5	,,	0,1,6074	AA,AG,GG		0.0,0.0259,0.0082	,,	29/939,29/972,29/3550	167760079	1,12149	1934	4141	6075	XIRP2	SO:0001819	synonymous_variant	0			-	HGNC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.87G>A	2.37:g.167760079G>A		Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-binding_Xin_repeat	p.R29	ENST00000409728.1	37	c.87	CCDS56143.1	2																																																																																			-	NULL		0.498	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333552.1	G	NM_152381	-		167760079	+1	no_errors	ENST00000295237	ensembl	human	known	74_37	silent	SNP	0.001	A
ZNF33B	7582	genome.wustl.edu	37	10	43127283	43127283	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:43127283C>T	ENST00000359467.3	-	4	365				ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGGAGATGTTCTTGAAAAATG	0.383																																					Melanoma(137;1247 1767 16772 25727 43810)												0								ENSG00000272373																																			ZNF33B	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.250+93G>A	10.37:g.43127283C>T		Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	Q06731|Q32MA2|Q86XY8|Q8NDW3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000359467.3	37	NULL	CCDS7198.1	10																																																																																			-	-		0.383	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000272373	protein_coding		C	NM_006955	-		43127283	-1	no_errors	ENST00000476796	ensembl	human	known	74_37	rna	SNP	0.054	T
CD300LG	146894	genome.wustl.edu	37	17	41931256	41931256	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:41931256C>T	ENST00000317310.4	+	4	604	c.563C>T	c.(562-564)tCc>tTc	p.S188F	CD300LG_ENST00000293396.8_Intron|CD300LG_ENST00000377203.4_Missense_Mutation_p.S154F|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.S188F	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	188					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCAGGGACTTCCCAGTACGGG	0.622																																																	0								ENSG00000161649						90.0	75.0	80.0					17																	41931256		2203	4300	6503	CD300LG	SO:0001583	missense	0			-	HGNC	BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.563C>T	17.37:g.41931256C>T	ENSP00000321005:p.Ser188Phe	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.S188F	ENST00000317310.4	37	c.563	CCDS11470.1	17	.	.	.	.	.	.	.	.	.	.	C	14.66	2.603035	0.46423	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203	T;T;T	0.06608	3.3;3.28;3.57	3.81	2.84	0.33178	.	0.798476	0.10631	N	0.652128	T	0.08268	0.0206	L	0.29908	0.895	0.09310	N	1	D;D;P	0.58268	0.982;0.982;0.917	P;P;B	0.54889	0.763;0.571;0.367	T	0.16928	-1.0386	10	0.09843	T	0.71	.	7.3817	0.26859	0.0:0.8819:0.0:0.1181	.	154;188;188	F8W9M3;F5H7P9;Q6UXG3	.;.;CLM9_HUMAN	F	188;188;154	ENSP00000321005:S188F;ENSP00000442368:S188F;ENSP00000366408:S154F	ENSP00000321005:S188F	S	+	2	0	CD300LG	39286782	0.001000	0.12720	0.004000	0.12327	0.009000	0.06853	0.568000	0.23623	1.197000	0.43143	0.561000	0.74099	TCC	-	NULL		0.622	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	protein_coding	OTTHUMT00000457646.1	C	NM_145273	-		41931256	+1	no_errors	ENST00000317310	ensembl	human	known	74_37	missense	SNP	0.004	T
USP37	57695	genome.wustl.edu	37	2	219374786	219374786	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:219374786T>A	ENST00000258399.3	-	11	1353	c.941A>T	c.(940-942)aAa>aTa	p.K314I	USP37_ENST00000454775.1_Missense_Mutation_p.K314I|USP37_ENST00000418019.1_Missense_Mutation_p.K314I|USP37_ENST00000415516.1_Missense_Mutation_p.K242I	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	314					G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTCAGTTTTTTAACAGAAAG	0.433																																																	0								ENSG00000135913						105.0	107.0	107.0					2																	219374786		2203	4300	6503	USP37	SO:0001583	missense	0			-	HGNC	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.941A>T	2.37:g.219374786T>A	ENSP00000258399:p.Lys314Ile	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19/C67	p.K314I	ENST00000258399.3	37	c.941	CCDS2418.1	2	.	.	.	.	.	.	.	.	.	.	T	24.9	4.580130	0.86645	.	.	ENSG00000135913	ENST00000258399;ENST00000454775;ENST00000415516;ENST00000418019	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.64494	0.2603	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66590	-0.5885	10	0.72032	D	0.01	-17.6923	16.1777	0.81874	0.0:0.0:0.0:1.0	.	242;314	Q86T82-2;Q86T82	.;UBP37_HUMAN	I	314;314;242;314	ENSP00000258399:K314I;ENSP00000393662:K314I;ENSP00000400902:K242I;ENSP00000396585:K314I	ENSP00000258399:K314I	K	-	2	0	USP37	219083030	1.000000	0.71417	1.000000	0.80357	0.769000	0.43574	5.246000	0.65411	2.222000	0.72286	0.383000	0.25322	AAA	-	NULL		0.433	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP37	protein_coding	OTTHUMT00000256779.3	T	NM_020935	-		219374786	-1	no_errors	ENST00000258399	ensembl	human	known	74_37	missense	SNP	1.000	A
NIPAL1	152519	genome.wustl.edu	37	4	48038018	48038018	+	Silent	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:48038018A>G	ENST00000295461.5	+	6	1128	c.1062A>G	c.(1060-1062)ctA>ctG	p.L354L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	354						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TCTTCCTTCTACATGCTTTTA	0.398																																																	0								ENSG00000163293						128.0	116.0	120.0					4																	48038018		2203	4300	6503	NIPAL1	SO:0001819	synonymous_variant	0			-	HGNC	BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1062A>G	4.37:g.48038018A>G		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	B3KTB0|Q68DA9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mg_trans_NIPA,pfam_DMT	p.L354	ENST00000295461.5	37	c.1062	CCDS3479.1	4																																																																																			-	pfam_Mg_trans_NIPA		0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	protein_coding	OTTHUMT00000250491.4	A	NM_207330	-		48038018	+1	no_errors	ENST00000295461	ensembl	human	known	74_37	silent	SNP	0.963	G
CLDN2	9075	genome.wustl.edu	37	X	106172048	106172048	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:106172048C>T	ENST00000541806.1	+	2	1109	c.590C>T	c.(589-591)gCc>gTc	p.A197V	CLDN2_ENST00000540876.1_Missense_Mutation_p.A197V|CLDN2_ENST00000336803.1_Missense_Mutation_p.A197V	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	197					calcium-independent cell-cell adhesion (GO:0016338)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TACTACGATGCCTACCAAGCC	0.498																																																	0								ENSG00000165376						127.0	118.0	121.0					X																	106172048		2203	4300	6503	CLDN2	SO:0001583	missense	0			-	HGNC	AK075405	CCDS14524.1	Xq22.3-q23	2008-05-14			ENSG00000165376	ENSG00000165376		"""Claudins"""	2041	protein-coding gene	gene with protein product		300520				9892664	Standard	NM_020384		Approved		uc022ccc.1	P57739	OTTHUMG00000022154	ENST00000541806.1:c.590C>T	X.37:g.106172048C>T	ENSP00000441283:p.Ala197Val	Somatic	0	35	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	B2R6B9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin2,prints_Claudin,prints_Claudin14	p.A197V	ENST00000541806.1	37	c.590	CCDS14524.1	X	.	.	.	.	.	.	.	.	.	.	C	2.822	-0.244538	0.05906	.	.	ENSG00000165376	ENST00000541806;ENST00000540876;ENST00000336803	D;D;D	0.85955	-2.05;-2.05;-2.05	4.7	2.69	0.31865	.	0.952940	0.08710	N	0.905112	T	0.71273	0.3320	N	0.08118	0	0.09310	N	1	B	0.24092	0.097	B	0.16722	0.016	T	0.54139	-0.8338	10	0.21540	T	0.41	.	12.6254	0.56626	0.0:0.4709:0.5291:0.0	.	197	P57739	CLD2_HUMAN	V	197	ENSP00000441283:A197V;ENSP00000443230:A197V;ENSP00000336571:A197V	ENSP00000336571:A197V	A	+	2	0	CLDN2	106058704	0.000000	0.05858	0.976000	0.42696	0.391000	0.30476	-0.130000	0.10498	0.828000	0.34709	0.529000	0.55759	GCC	-	prints_Claudin2		0.498	CLDN2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN2	protein_coding	OTTHUMT00000057815.1	C		-		106172048	+1	no_errors	ENST00000336803	ensembl	human	known	74_37	missense	SNP	0.001	T
PLCB4	5332	genome.wustl.edu	37	20	9288516	9288516	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:9288516G>A	ENST00000378493.1	+	1	70	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	PLCB4_ENST00000414679.2_Missense_Mutation_p.E19K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E19K|PLCB4_ENST00000378501.2_Missense_Mutation_p.E19K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E19K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E19K			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	19					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTTTTGCAAGAAGGAGCAGT	0.308																																																	0								ENSG00000101333						64.0	59.0	61.0					20																	9288516		2203	4298	6501	PLCB4	SO:0001583	missense	0			-	HGNC		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.55G>A	20.37:g.9288516G>A	ENSP00000367754:p.Glu19Lys	Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E19K	ENST00000378493.1	37	c.55	CCDS13105.1	20	.	.	.	.	.	.	.	.	.	.	G	12.61	1.990328	0.35131	.	.	ENSG00000101333	ENST00000407043;ENST00000441846;ENST00000334005;ENST00000378473;ENST00000437503;ENST00000416836;ENST00000278655;ENST00000378493;ENST00000378501	T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.86	5.86	0.93980	Pleckstrin homology-type (1);	0.202236	0.51477	D	0.000092	T	0.23806	0.0576	N	0.03324	-0.35	0.38699	D	0.95293	B;B;B	0.20780	0.0;0.048;0.0	B;B;B	0.15870	0.001;0.014;0.002	T	0.13522	-1.0506	10	0.20519	T	0.43	.	18.9701	0.92711	0.0:0.0:1.0:0.0	.	19;19;19	E2QRH8;Q15147;Q15147-4	.;PLCB4_HUMAN;.	K	19	ENSP00000385805:E19K;ENSP00000412982:E19K;ENSP00000334105:E19K;ENSP00000367734:E19K;ENSP00000391614:E19K;ENSP00000395753:E19K;ENSP00000278655:E19K;ENSP00000367754:E19K;ENSP00000367762:E19K	ENSP00000278655:E19K	E	+	1	0	PLCB4	9236516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.072000	0.76777	2.781000	0.95711	0.650000	0.86243	GAA	-	pirsf_PLC-beta		0.308	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCB4	protein_coding	OTTHUMT00000077948.2	G		-		9288516	+1	no_errors	ENST00000334005	ensembl	human	known	74_37	missense	SNP	1.000	A
FBXW10	10517	genome.wustl.edu	37	17	18653276	18653276	+	Intron	SNP	C	C	T	rs200711350	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:18653276C>T	ENST00000395665.4	+	3	1092				FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000308799.4_Silent_p.P304P			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GACACCTCCCCTCTTGGCCCA	0.522																																																	0								ENSG00000171931						46.0	45.0	45.0					17																	18653276		2203	4296	6499	FBXW10	SO:0001627	intron_variant	0			-	HGNC	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.871+41C>T	17.37:g.18653276C>T		Somatic	0	109	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	43	31.75	C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P304	ENST00000395665.4	37	c.912	CCDS11199.3	17																																																																																			-	superfamily_F-box_dom		0.522	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	FBXW10	protein_coding	OTTHUMT00000313531.2	C	NM_031456	-		18653276	+1	no_errors	ENST00000308799	ensembl	human	known	74_37	silent	SNP	0.000	T
CDH7	1005	genome.wustl.edu	37	18	63477063	63477063	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:63477063C>T	ENST00000397968.2	+	3	760	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	CDH7_ENST00000536984.2_Missense_Mutation_p.R112C|CDH7_ENST00000323011.3_Missense_Mutation_p.R112C	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	112	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGACTGGATCGTGAGGAGCA	0.498																																																	0								ENSG00000081138						79.0	73.0	75.0					18																	63477063		2203	4300	6503	CDH7	SO:0001583	missense	0			-	HGNC	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.334C>T	18.37:g.63477063C>T	ENSP00000381058:p.Arg112Cys	Somatic	0	51	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	23	41.03	Q9H157	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R112C	ENST00000397968.2	37	c.334	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	C	21.7	4.192492	0.78902	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.59772	0.24;0.24;0.24	5.83	5.83	0.93111	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85805	0.5782	H	0.97291	3.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90103	0.4186	10	0.87932	D	0	.	20.1416	0.98058	0.0:1.0:0.0:0.0	.	112;112	F5H5X9;Q9ULB5	.;CADH7_HUMAN	C	112	ENSP00000319166:R112C;ENSP00000443030:R112C;ENSP00000381058:R112C	ENSP00000319166:R112C	R	+	1	0	CDH7	61628043	1.000000	0.71417	0.341000	0.25589	0.924000	0.55760	4.314000	0.59166	2.767000	0.95098	0.650000	0.86243	CGT	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.498	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	protein_coding	OTTHUMT00000256217.2	C	NM_033646	-		63477063	+1	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	SNP	1.000	T
RALGAPA1	253959	genome.wustl.edu	37	14	36074835	36074835	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:36074835C>T	ENST00000389698.3	-	35	5882	c.5492G>A	c.(5491-5493)gGa>gAa	p.G1831E	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.G1831E|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.G1844E|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.G1878E	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1831	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGCTTGACTTCCTCCTGTATT	0.333																																																	0								ENSG00000174373						95.0	88.0	90.0					14																	36074835		2203	4300	6503	RALGAPA1	SO:0001583	missense	0			-	HGNC	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5492G>A	14.37:g.36074835C>T	ENSP00000374348:p.Gly1831Glu	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom	p.G1878E	ENST00000389698.3	37	c.5633	CCDS32065.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.4|28.4	4.919353|4.919353	0.92249|0.92249	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.95307	.|-3.67;-3.67;-3.67;-3.67;-3.67;-3.67	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Rap/ran-GAP (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97576|0.97576	0.9206|0.9206	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;0.998;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;0.976;1.0	D|D	0.98102|0.98102	1.0415|1.0415	5|10	.|0.87932	.|D	.|0	-18.7454|-18.7454	19.3243|19.3243	0.94254|0.94254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1878;1844;1831;1831	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	K|E	114|1831;1831;1831;1878;469;1844;1878	.|ENSP00000374348:G1831E;ENSP00000302647:G1831E;ENSP00000258840:G1878E;ENSP00000451133:G469E;ENSP00000371803:G1844E;ENSP00000451877:G1878E	.|ENSP00000258840:G1878E	E|G	-|-	1|2	0|0	RALGAPA1|RALGAPA1	35144586|35144586	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.729000|7.729000	0.84864|0.84864	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GAA|GGA	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.333	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	RALGAPA1	protein_coding	OTTHUMT00000409829.1	C	XM_210022	-		36074835	-1	no_errors	ENST00000258840	ensembl	human	known	74_37	missense	SNP	1.000	T
MAP3K14-AS1	100133991	genome.wustl.edu	37	17	43344761	43344761	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:43344761G>A	ENST00000585780.1	+	0	1831				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000591263.1_RNA					MAP3K14 antisense RNA 1																		CTGCAGCCACGGCTGCCCGTA	0.662																																																	0								ENSG00000267278						10.0	10.0	10.0					17																	43344761		1932	4120	6052	MAP3K14-AS1			0			-	HGNC	AK311429, BC031942		17q21.31	2014-06-16			ENSG00000267278	ENSG00000267278		"""Long non-coding RNAs"""	44359	non-coding RNA	RNA, long non-coding							Standard	NR_024435		Approved		uc002iit.4		OTTHUMG00000180362		17.37:g.43344761G>A		Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	49	12.50		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000585780.1	37	NULL		17																																																																																			-	-		0.662	MAP3K14-AS1-008	KNOWN	basic	antisense	MAP3K14-AS1	antisense	OTTHUMT00000450941.1	G	NR_024434	-		43344761	+1	no_errors	ENST00000585346	ensembl	human	known	74_37	rna	SNP	0.000	A
NUGGC	389643	genome.wustl.edu	37	8	27927065	27927065	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:27927065G>A	ENST00000413272.2	-	4	395	c.253C>T	c.(253-255)Ctc>Ttc	p.L85F	NUGGC_ENST00000341513.6_Missense_Mutation_p.L85F	NM_001010906.1	NP_001010906.1	Q68CJ6	SLIP_HUMAN	nuclear GTPase, germinal center associated	85					cellular response to DNA damage stimulus (GO:0006974)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)										ACTCACATGAGATACTTGACT	0.408																																																	0								ENSG00000189233						107.0	104.0	105.0					8																	27927065		1931	4161	6092	NUGGC	SO:0001583	missense	0			-	HGNC	AB075870	CCDS47833.1	8p21.1	2012-06-07	2012-06-07	2012-06-07	ENSG00000189233	ENSG00000189233			33550	protein-coding gene	gene with protein product	"""speckled-like pattern in the germinal center"""		"""chromosome 8 open reading frame 80"""	C8orf80		19734146	Standard	NM_001010906		Approved	HMFN0672, SLIP-GC	uc003xgm.4	Q68CJ6	OTTHUMG00000155970	ENST00000413272.2:c.253C>T	8.37:g.27927065G>A	ENSP00000408697:p.Leu85Phe	Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q6ZP73	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.L85F	ENST00000413272.2	37	c.253	CCDS47833.1	8	.	.	.	.	.	.	.	.	.	.	G	21.2	4.116453	0.77323	.	.	ENSG00000189233	ENST00000413272;ENST00000341513	D;D	0.96011	-3.88;-3.88	5.38	5.38	0.77491	.	0.000000	0.56097	D	0.000031	D	0.95843	0.8647	L	0.36672	1.1	0.40282	D	0.978407	D	0.89917	1.0	D	0.78314	0.991	D	0.94730	0.7909	10	0.30854	T	0.27	.	14.9787	0.71296	0.0:0.0:1.0:0.0	.	85	Q68CJ6	SLIP_HUMAN	F	85	ENSP00000408697:L85F;ENSP00000345031:L85F	ENSP00000345031:L85F	L	-	1	0	C8orf80	27982984	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.445000	0.52921	2.671000	0.90904	0.650000	0.86243	CTC	-	superfamily_P-loop_NTPase		0.408	NUGGC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUGGC	protein_coding	OTTHUMT00000342494.1	G	NM_001010906	-		27927065	-1	no_errors	ENST00000341513	ensembl	human	known	74_37	missense	SNP	1.000	A
CELP	1057	genome.wustl.edu	37	9	135962585	135962586	+	RNA	INS	-	-	GCCCCATCCCCGCTACGGGTGACTCTGAGGCC	rs641386|rs372789499|rs143200085	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:135962585_135962586insGCCCCATCCCCGCTACGGGTGACTCTGAGGCC	ENST00000411440.2	+	0	1092_1093					NR_001275.2				carboxyl ester lipase pseudogene																		ACACTGAGGCTGCCCCTGTGTC	0.629																																																	0								ENSG00000170827																																			CELP			0				HGNC	L14813		9q34.2	2014-03-18	2003-02-28	2003-03-07	ENSG00000170827	ENSG00000170827			1849	pseudogene	pseudogene			"""carboxyl ester lipase-like (bile salt-stimulated lipase-like)"""	CELL		1639390	Standard	NR_001275		Approved		uc011mcu.1		OTTHUMG00000020857		9.37:g.135962585_135962586insGCCCCATCCCCGCTACGGGTGACTCTGAGGCC		Somatic	NA	NA	NA		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000411440.2	37	NULL		9																																																																																			-	-		0.629	CELP-002	KNOWN	basic	processed_transcript	CELP	pseudogene	OTTHUMT00000339837.1	-	NM_001808			135962586	+1	no_errors	ENST00000411440	ensembl	human	known	74_37	rna	INS	0.130:0.000	GCCCCATCCCCGCTACGGGTGACTCTGAGGCC
CSMD3	114788	genome.wustl.edu	37	8	114111130	114111130	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:114111130G>A	ENST00000297405.5	-	5	1016	c.772C>T	c.(772-774)Cct>Tct	p.P258S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P258S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P258S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P218S|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	258	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACTCATTAGGAAAACTAGGG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						122.0	106.0	112.0					8																	114111130		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.772C>T	8.37:g.114111130G>A	ENSP00000297405:p.Pro258Ser	Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	40	21.57	Q96PZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.P258S	ENST00000297405.5	37	c.772	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	22.2	4.255464	0.80135	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.52754	0.65;0.65;0.65;0.65	5.41	5.41	0.78517	CUB (5);	0.000000	0.64402	D	0.000001	T	0.76962	0.4061	M	0.92219	3.285	0.49915	D	0.999833	P;D;D;D	0.89917	0.545;1.0;0.998;1.0	B;D;D;D	0.91635	0.15;0.998;0.941;0.999	T	0.79596	-0.1738	10	0.41790	T	0.15	.	19.559	0.95364	0.0:0.0:1.0:0.0	.	258;258;258;218	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	S	218;258;258;258	ENSP00000345799:P218S;ENSP00000297405:P258S;ENSP00000412263:P258S;ENSP00000343124:P258S	ENSP00000297405:P258S	P	-	1	0	CSMD3	114180306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.808000	0.99193	2.707000	0.92482	0.655000	0.94253	CCT	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900	-		114111130	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	1.000	A
BFSP2	8419	genome.wustl.edu	37	3	133119036	133119036	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:133119036G>A	ENST00000302334.2	+	1	198	c.109G>A	c.(109-111)Gag>Aag	p.E37K		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	37	Head.				cell maturation (GO:0048469)|intermediate filament cytoskeleton organization (GO:0045104)|lens fiber cell development (GO:0070307)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.E37K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATCCTCCCTGGAGAGCCCCCC	0.652																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000170819						50.0	58.0	55.0					3																	133119036		2203	4300	6503	BFSP2	SO:0001583	missense	0			-	HGNC	U48224	CCDS33859.1	3q22.1	2013-01-16			ENSG00000170819	ENSG00000170819		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1041	protein-coding gene	gene with protein product		603212					Standard	NM_003571		Approved	CP47, CP49, LIFL-L, phakinin	uc003epn.1	Q13515	OTTHUMG00000159719	ENST00000302334.2:c.109G>A	3.37:g.133119036G>A	ENSP00000304987:p.Glu37Lys	Somatic	0	100	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	43	40.28	Q14D32|Q9HBW5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,prints_Keratin_I	p.E37K	ENST00000302334.2	37	c.109	CCDS33859.1	3	.	.	.	.	.	.	.	.	.	.	G	17.90	3.502435	0.64298	.	.	ENSG00000170819	ENST00000302334	D	0.82893	-1.66	5.63	5.63	0.86233	.	0.664983	0.14529	N	0.313979	T	0.77519	0.4142	L	0.58101	1.795	0.33564	D	0.597763	P	0.40050	0.7	B	0.33568	0.166	T	0.77752	-0.2470	10	0.05833	T	0.94	-2.2324	17.4612	0.87620	0.0:0.0:1.0:0.0	.	37	Q13515	BFSP2_HUMAN	K	37	ENSP00000304987:E37K	ENSP00000304987:E37K	E	+	1	0	BFSP2	134601726	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	8.080000	0.89510	2.668000	0.90789	0.563000	0.77884	GAG	-	NULL		0.652	BFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFSP2	protein_coding	OTTHUMT00000357031.1	G		-		133119036	+1	no_errors	ENST00000302334	ensembl	human	known	74_37	missense	SNP	1.000	A
DENND4B	9909	genome.wustl.edu	37	1	153912188	153912188	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153912188C>T	ENST00000361217.4	-	12	2114	c.1696G>A	c.(1696-1698)Gtc>Atc	p.V566I		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	566	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTCCTTGGACTTCGCGCTCC	0.642																																																	0								ENSG00000198837						68.0	82.0	77.0					1																	153912188		2055	4178	6233	DENND4B	SO:0001583	missense	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1696G>A	1.37:g.153912188C>T	ENSP00000354597:p.Val566Ile	Somatic	0	132	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	62	17.33	Q5T4K0	Missense_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	p.V566I	ENST00000361217.4	37	c.1696	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	6.142	0.394392	0.11638	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.49432	0.78;0.78	5.14	5.14	0.70334	dDENN (3);	0.313199	0.30949	N	0.008542	T	0.04137	0.0115	N	0.00332	-1.63	0.42668	D	0.993506	B	0.16603	0.018	B	0.17979	0.02	T	0.47761	-0.9092	10	0.02654	T	1	-26.5635	7.6274	0.28220	0.0:0.8285:0.0:0.1715	.	566	O75064	DEN4B_HUMAN	I	566;577	ENSP00000354597:V566I;ENSP00000357635:V577I	ENSP00000354597:V566I	V	-	1	0	DENND4B	152178812	1.000000	0.71417	0.989000	0.46669	0.623000	0.37688	4.724000	0.61972	2.689000	0.91719	0.462000	0.41574	GTC	-	pfam_dDENN_dom,smart_dDENN_dom,pfscan_dDENN_dom		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	C	XM_375806	-		153912188	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	SNP	1.000	T
ULK4	54986	genome.wustl.edu	37	3	41497047	41497047	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:41497047C>T	ENST00000301831.4	-	34	3895	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	1145					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AGCAGGTCTTCTGCAGCCTGA	0.512																																																	0								ENSG00000168038						97.0	100.0	99.0					3																	41497047		1925	4140	6065	ULK4	SO:0001583	missense	0			-	HGNC	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.3433G>A	3.37:g.41497047C>T	ENSP00000301831:p.Glu1145Lys	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	46	14.55	A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E1145K	ENST00000301831.4	37	c.3433	CCDS43071.1	3	.	.	.	.	.	.	.	.	.	.	C	26.2	4.710984	0.89112	.	.	ENSG00000168038	ENST00000301831	T	0.66815	-0.23	5.37	5.37	0.77165	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.45126	U	0.000398	T	0.79305	0.4423	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.80828	-0.1208	10	0.87932	D	0	.	19.1143	0.93331	0.0:1.0:0.0:0.0	.	1145	Q96C45	ULK4_HUMAN	K	1145	ENSP00000301831:E1145K	ENSP00000301831:E1145K	E	-	1	0	ULK4	41472051	1.000000	0.71417	0.905000	0.35620	0.704000	0.40688	5.634000	0.67833	2.534000	0.85438	0.655000	0.94253	GAA	-	superfamily_ARM-type_fold		0.512	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK4	protein_coding	OTTHUMT00000343490.1	C	XM_929989	-		41497047	-1	no_errors	ENST00000301831	ensembl	human	known	74_37	missense	SNP	0.995	T
HIPK2	28996	genome.wustl.edu	37	7	139299109	139299109	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:139299109T>A	ENST00000406875.3	-	8	2007	c.1913A>T	c.(1912-1914)cAg>cTg	p.Q638L	HIPK2_ENST00000428878.2_Missense_Mutation_p.Q611L|HIPK2_ENST00000342645.6_Missense_Mutation_p.Q638L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	638	Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGTTCCTGTCTGCAGGGGCAT	0.587																																																	0								ENSG00000064393						47.0	53.0	51.0					7																	139299109		1949	4149	6098	HIPK2	SO:0001583	missense	0			-	HGNC	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.1913A>T	7.37:g.139299109T>A	ENSP00000385571:p.Gln638Leu	Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q638L	ENST00000406875.3	37	c.1913		7	.	.	.	.	.	.	.	.	.	.	T	16.13	3.036568	0.54896	.	.	ENSG00000064393	ENST00000406875;ENST00000428878;ENST00000342645	T;T;T	0.55588	0.51;0.57;0.57	5.39	4.23	0.50019	.	.	.	.	.	T	0.40222	0.1108	.	.	.	0.47183	D	0.99934	P;B	0.37466	0.596;0.069	B;B	0.26770	0.073;0.055	T	0.37842	-0.9688	8	0.72032	D	0.01	.	11.5157	0.50520	0.0:0.0708:0.0:0.9292	.	638;611	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	L	638;611;638	ENSP00000385571:Q638L;ENSP00000413724:Q611L;ENSP00000343108:Q638L	ENSP00000343108:Q638L	Q	-	2	0	HIPK2	138949649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.111000	0.71541	0.978000	0.38470	0.460000	0.39030	CAG	-	NULL		0.587	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	HIPK2	protein_coding	OTTHUMT00000349430.3	T	NM_022740	-		139299109	-1	no_errors	ENST00000406875	ensembl	human	known	74_37	missense	SNP	1.000	A
TMEM132B	114795	genome.wustl.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral component of membrane (GO:0016021)		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423																																																	1	Substitution - Missense(1)	NS(1)						ENSG00000139364						88.0	87.0	87.0					12																	126138387		2059	4205	6264	TMEM132B	SO:0001583	missense	0			-	HGNC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2368G>A	12.37:g.126138387G>A	ENSP00000299308:p.Glu790Lys	Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E790K	ENST00000299308.3	37	c.2368	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678338	0.47886	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13538	2.58;2.58	5.53	5.53	0.82687	.	0.479442	0.20533	N	0.090474	T	0.11580	0.0282	L	0.34521	1.04	0.40552	D	0.981121	P	0.47106	0.89	B	0.33295	0.161	T	0.10660	-1.0620	10	0.41790	T	0.15	.	19.4753	0.94985	0.0:0.0:1.0:0.0	.	790	Q14DG7	T132B_HUMAN	K	790;302	ENSP00000299308:E790K;ENSP00000440436:E302K	ENSP00000299308:E790K	E	+	1	0	TMEM132B	124704340	1.000000	0.71417	0.343000	0.25615	0.598000	0.36846	6.179000	0.71974	2.596000	0.87737	0.650000	0.86243	GAA	-	NULL		0.423	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	protein_coding	OTTHUMT00000400043.1	G	NM_052907	-		126138387	+1	no_errors	ENST00000299308	ensembl	human	known	74_37	missense	SNP	1.000	A
RFWD3	55159	genome.wustl.edu	37	16	74662525	74662525	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:74662525G>A	ENST00000361070.4	-	11	1891	c.1794C>T	c.(1792-1794)gcC>gcT	p.A598A	RFWD3_ENST00000571750.1_Silent_p.A598A	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	598					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						ATGCAGCTGAGGCAGCTCTGG	0.517																																																	0								ENSG00000168411						143.0	144.0	144.0					16																	74662525		2198	4300	6498	RFWD3	SO:0001819	synonymous_variant	0			-	HGNC	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1794C>T	16.37:g.74662525G>A		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING	p.A598	ENST00000361070.4	37	c.1794	CCDS32486.1	16																																																																																			-	NULL		0.517	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD3	protein_coding	OTTHUMT00000436506.2	G	NM_018124	-		74662525	-1	no_errors	ENST00000361070	ensembl	human	known	74_37	silent	SNP	0.959	A
ANO3	63982	genome.wustl.edu	37	11	26581287	26581287	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:26581287G>A	ENST00000256737.3	+	14	2260	c.1408G>A	c.(1408-1410)Gga>Aga	p.G470R	MUC15_ENST00000281268.8_3'UTR|ANO3_ENST00000537978.1_Missense_Mutation_p.G454R|MUC15_ENST00000455601.2_3'UTR|ANO3_ENST00000529242.1_3'UTR|MUC15_ENST00000436318.2_3'UTR|ANO3_ENST00000525139.1_Missense_Mutation_p.G454R|ANO3_ENST00000531568.1_Missense_Mutation_p.G324R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	470					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTTCGATAATGGAGGGACAGT	0.343																																																	0								ENSG00000134343						299.0	274.0	282.0					11																	26581287		2202	4299	6501	ANO3	SO:0001583	missense	0			-	HGNC	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1408G>A	11.37:g.26581287G>A	ENSP00000256737:p.Gly470Arg	Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	31	34.04	B7Z3F5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Anoctamin	p.G470R	ENST00000256737.3	37	c.1408	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192321	0.78902	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.46	5.46	0.80206	.	0.051685	0.85682	D	0.000000	T	0.74831	0.3768	L	0.58583	1.82	0.80722	D	1	D;D	0.67145	0.992;0.996	D;D	0.73380	0.98;0.98	T	0.68021	-0.5519	10	0.17832	T	0.49	.	18.4396	0.90660	0.0:0.0:1.0:0.0	.	372;470	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	R	454;454;470;372;324	ENSP00000440737:G454R;ENSP00000432576:G454R;ENSP00000256737:G470R;ENSP00000432394:G324R	ENSP00000256737:G470R	G	+	1	0	ANO3	26537863	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.696000	0.84270	2.711000	0.92665	0.650000	0.86243	GGA	-	pfam_Anoctamin		0.343	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	protein_coding	OTTHUMT00000387806.1	G	NM_031418	-		26581287	+1	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	SNP	1.000	A
MBOAT7	79143	genome.wustl.edu	37	19	54687475	54687475	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:54687475C>T	ENST00000245615.1	-	5	902	c.422G>A	c.(421-423)gGg>gAg	p.G141E	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Missense_Mutation_p.G68E|MBOAT7_ENST00000338624.6_Missense_Mutation_p.G68E|MBOAT7_ENST00000391754.1_Missense_Mutation_p.G141E	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	141					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGGCAGCAGCCCCAGGGTGGG	0.622																																					NSCLC(97;826 2151 10470 22540)												0								ENSG00000125505						90.0	76.0	81.0					19																	54687475		2203	4300	6503	MBOAT7	SO:0001583	missense	0			-	HGNC	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.422G>A	19.37:g.54687475C>T	ENSP00000245615:p.Gly141Glu	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MBOAT_fam	p.G141E	ENST00000245615.1	37	c.422	CCDS12883.1	19	.	.	.	.	.	.	.	.	.	.	C	7.156	0.584652	0.13749	.	.	ENSG00000125505	ENST00000431666;ENST00000338624;ENST00000245615;ENST00000449249;ENST00000391754;ENST00000414665;ENST00000453320	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	4.2	4.2	0.49525	.	0.121256	0.56097	D	0.000038	T	0.67116	0.2859	L	0.51422	1.61	0.32776	N	0.503107	P;P;B	0.51933	0.509;0.949;0.316	B;P;B	0.48873	0.133;0.593;0.091	T	0.68557	-0.5377	10	0.02654	T	1	-19.4442	15.861	0.79021	0.0:1.0:0.0:0.0	.	123;68;141	B4DDH8;Q96N66-2;Q96N66	.;.;MBOA7_HUMAN	E	68;68;141;93;141;141;141	ENSP00000410503:G68E;ENSP00000344377:G68E;ENSP00000245615:G141E;ENSP00000375634:G141E;ENSP00000388250:G141E	ENSP00000245615:G141E	G	-	2	0	MBOAT7	59379287	0.998000	0.40836	0.870000	0.34147	0.948000	0.59901	3.639000	0.54339	2.111000	0.64477	0.442000	0.29010	GGG	-	pfam_MBOAT_fam		0.622	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	protein_coding	OTTHUMT00000142203.1	C	NM_024298	-		54687475	-1	no_errors	ENST00000245615	ensembl	human	known	74_37	missense	SNP	0.913	T
CCSER1	401145	genome.wustl.edu	37	4	92007137	92007137	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:92007137G>A	ENST00000509176.1	+	10	2497	c.2209G>A	c.(2209-2211)Ggg>Agg	p.G737R	CCSER1_ENST00000333691.8_Missense_Mutation_p.G737R	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	737								p.G739R(1)|p.G737R(1)									AGTACAAGGAGGGAGAGAGGT	0.353																																																	2	Substitution - Missense(2)	skin(2)						ENSG00000184305						77.0	67.0	70.0					4																	92007137		692	1591	2283	CCSER1	SO:0001583	missense	0			-	HGNC		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2209G>A	4.37:g.92007137G>A	ENSP00000425040:p.Gly737Arg	Somatic	0	93	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	37	21.28	Q4W5M0|Q86V57	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G737R	ENST00000509176.1	37	c.2209	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051672	0.75960	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.38887	1.11;1.11	5.1	5.1	0.69264	.	.	.	.	.	T	0.48114	0.1482	N	0.14661	0.345	0.31694	N	0.641575	D	0.89917	1.0	D	0.75484	0.986	T	0.55289	-0.8164	9	0.72032	D	0.01	.	14.7446	0.69480	0.0:0.0:1.0:0.0	.	737	Q9C0I3	F190A_HUMAN	R	737	ENSP00000425040:G737R;ENSP00000329482:G737R	ENSP00000329482:G737R	G	+	1	0	FAM190A	92226160	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	4.145000	0.58065	2.762000	0.94881	0.591000	0.81541	GGG	-	NULL		0.353	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER1	protein_coding	OTTHUMT00000363109.3	G	NM_001145065	-		92007137	+1	no_errors	ENST00000333691	ensembl	human	known	74_37	missense	SNP	1.000	A
ICAM1	3383	genome.wustl.edu	37	19	10394296	10394296	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10394296G>A	ENST00000264832.3	+	3	796	c.471G>A	c.(469-471)ctG>ctA	p.L157L	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	157	Ig-like C2-type 2.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	AGAAGGAGCTGAAACGGGAGC	0.652																																																	0								ENSG00000090339						28.0	30.0	29.0					19																	10394296		2203	4300	6503	ICAM1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.471G>A	19.37:g.10394296G>A		Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	B2R6M3|Q5NKV7|Q96B50	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM	p.L157	ENST00000264832.3	37	c.471	CCDS12231.1	19																																																																																			-	prints_ICAM_VCAM_N		0.652	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM1	protein_coding	OTTHUMT00000451207.1	G		-		10394296	+1	no_errors	ENST00000264832	ensembl	human	known	74_37	silent	SNP	0.696	A
GPR125	166647	genome.wustl.edu	37	4	22404412	22404412	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:22404412C>T	ENST00000334304.5	-	15	2512	c.2243G>A	c.(2242-2244)gGa>gAa	p.G748E	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	748	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TAGTTCAGATCCCGTCAAATC	0.428																																																	0								ENSG00000152990						83.0	86.0	85.0					4																	22404412		2203	4300	6503	GPR125	SO:0001583	missense	0			-	HGNC	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2243G>A	4.37:g.22404412C>T	ENSP00000334952:p.Gly748Glu	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q6UXK9|Q86SQ5|Q8TC55	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom	p.G748E	ENST00000334304.5	37	c.2243	CCDS33964.1	4	.	.	.	.	.	.	.	.	.	.	C	10.65	1.408486	0.25378	.	.	ENSG00000152990	ENST00000334304	T	0.55052	0.54	4.83	4.83	0.62350	GPS domain (2);	0.237771	0.43260	D	0.000597	T	0.44623	0.1302	M	0.61703	1.905	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.001	T	0.37596	-0.9699	10	0.02654	T	1	-19.2348	12.7432	0.57266	0.0:0.9171:0.0:0.0829	.	605;748	Q8IWK6-3;Q8IWK6	.;GP125_HUMAN	E	748	ENSP00000334952:G748E	ENSP00000334952:G748E	G	-	2	0	GPR125	22013510	0.912000	0.30974	0.067000	0.19924	0.941000	0.58515	2.592000	0.46171	2.399000	0.81585	0.591000	0.81541	GGA	-	smart_GPS_dom,pfscan_GPS_dom		0.428	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR125	protein_coding	OTTHUMT00000362960.3	C		-		22404412	-1	no_errors	ENST00000334304	ensembl	human	known	74_37	missense	SNP	1.000	T
BCL2L12	83596	genome.wustl.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T	rs267605591		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|BCL2L12_ENST00000246784.3_Silent_p.F17F|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|BCL2L12_ENST00000441864.2_Silent_p.F17F|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000600022.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572																																																	0								ENSG00000126453						42.0	46.0	45.0					19																	50169131		2203	4300	6503	BCL2L12	SO:0001819	synonymous_variant	0			-	HGNC	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.51C>T	19.37:g.50169131C>T		Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q3SY11|Q3SY13|Q96I96|Q9HB08	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.F17	ENST00000246785.3	37	c.51	CCDS12776.1	19																																																																																			-	NULL		0.572	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	protein_coding	OTTHUMT00000465770.1	C	NM_052842	-		50169131	+1	no_errors	ENST00000246785	ensembl	human	known	74_37	silent	SNP	0.876	T
APOD	347	genome.wustl.edu	37	3	195300824	195300824	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:195300824C>T	ENST00000343267.3	-	3	503	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	48					aging (GO:0007568)|angiogenesis (GO:0001525)|brain development (GO:0007420)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of lipoprotein lipid oxidation (GO:0060588)|negative regulation of monocyte chemotactic protein-1 production (GO:0071638)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein import into nucleus (GO:0042308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of T cell migration (GO:2000405)|peripheral nervous system axon regeneration (GO:0014012)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to reactive oxygen species (GO:0000302)|tissue regeneration (GO:0042246)	cytosolic ribosome (GO:0022626)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|lipid transporter activity (GO:0005319)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TTCTCAATTTCGTACCATCTT	0.478																																																	0								ENSG00000189058						160.0	134.0	143.0					3																	195300824		2203	4300	6503	APOD	SO:0001583	missense	0			-	HGNC		CCDS33925.1	3q29	2013-09-19			ENSG00000189058	ENSG00000189058		"""Lipocalins"", ""Apolipoproteins"""	612	protein-coding gene	gene with protein product		107740				2439269, 3453108	Standard	NM_001647		Approved		uc003fur.2	P05090	OTTHUMG00000155854	ENST00000343267.3:c.142G>A	3.37:g.195300824C>T	ENSP00000345179:p.Glu48Lys	Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	47	14.55	B2R579|D3DNW6|Q6IBG6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_ApolipopD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac	p.E48K	ENST00000343267.3	37	c.142	CCDS33925.1	3	.	.	.	.	.	.	.	.	.	.	C	33	5.281644	0.95489	.	.	ENSG00000189058	ENST00000343267;ENST00000421243;ENST00000453131	T;T;T	0.37584	1.19;1.19;1.19	5.91	5.91	0.95273	Lipocalin conserved site (1);Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.98005	4.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83809	0.0240	10	0.87932	D	0	-24.7639	15.7984	0.78433	0.0:1.0:0.0:0.0	.	48;48	B4DGC3;P05090	.;APOD_HUMAN	K	48;76;48	ENSP00000345179:E48K;ENSP00000415235:E76K;ENSP00000393076:E48K	ENSP00000345179:E48K	E	-	1	0	APOD	196782113	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	6.915000	0.75770	2.802000	0.96397	0.655000	0.94253	GAA	-	pfam_Lipocln_cytosolic_FA-bd_dom,pfam_Triabin_pallidipin/procalin,superfamily_Calycin-like,pirsf_Lipocalin_ApoD,prints_Invtbrt_color,prints_Lipocalin,prints_Lipocalin_bac		0.478	APOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOD	protein_coding	OTTHUMT00000342004.1	C	NM_001647	-		195300824	-1	no_errors	ENST00000343267	ensembl	human	known	74_37	missense	SNP	0.999	T
PRAMEF10	343071	genome.wustl.edu	37	1	12954686	12954686	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:12954686C>T	ENST00000235347.4	-	3	676	c.597G>A	c.(595-597)ttG>ttA	p.L199L		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	199					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATATCCTTTCCAATAGATTTC	0.448																																																	0								ENSG00000187545						1.0	1.0	1.0					1																	12954686		323	667	990	PRAMEF10	SO:0001819	synonymous_variant	0			-	HGNC	AL049682	CCDS41255.1	1p36.21	2013-01-17			ENSG00000187545	ENSG00000187545		"""-"""	27997	protein-coding gene	gene with protein product							Standard	NM_001039361		Approved		uc001auo.3	O60809	OTTHUMG00000001981	ENST00000235347.4:c.597G>A	1.37:g.12954686C>T		Somatic	1	130	0.76		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	74	28.85	Q2M1V2	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L199	ENST00000235347.4	37	c.597	CCDS41255.1	1																																																																																			-	NULL		0.448	PRAMEF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF10	protein_coding	OTTHUMT00000005512.2	C	XM_496342	-		12954686	-1	no_errors	ENST00000235347	ensembl	human	known	74_37	silent	SNP	0.000	T
SNAP25	6616	genome.wustl.edu	37	20	10273570	10273570	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:10273570C>T	ENST00000254976.2	+	5	374				SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Silent_p.N68N	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	ACCATATCAACCAAGACATGA	0.423																																																	0								ENSG00000132639						115.0	110.0	112.0					20																	10273570		2203	4300	6503	SNAP25	SO:0001627	intron_variant	0			-	HGNC		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-239C>T	20.37:g.10273570C>T		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.N68	ENST00000254976.2	37	c.204	CCDS13110.1	20																																																																																			-	superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.423	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	protein_coding	OTTHUMT00000077976.3	C	NM_130811	-		10273570	+1	no_errors	ENST00000304886	ensembl	human	known	74_37	silent	SNP	1.000	T
COPS2	9318	genome.wustl.edu	37	15	49431802	49431802	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:49431802T>A	ENST00000388901.5	-	4	368	c.295A>T	c.(295-297)Att>Ttt	p.I99F	COPS2_ENST00000542928.1_Missense_Mutation_p.I35F|Y_RNA_ENST00000363250.1_RNA|COPS2_ENST00000299259.6_Missense_Mutation_p.I99F	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	99					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		GCACTCCGAATATAGGTCAAT	0.299																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												0								ENSG00000166200						75.0	80.0	78.0					15																	49431802		2196	4288	6484	COPS2	SO:0001583	missense	0			-	HGNC	AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.295A>T	15.37:g.49431802T>A	ENSP00000373553:p.Ile99Phe	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PCI_dom,smart_PAM,smart_PCI_dom	p.I99F	ENST00000388901.5	37	c.295	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	T	26.9	4.778921	0.90195	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.34	4.17	0.49024	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.77445	0.4131	M	0.91459	3.21	0.80722	D	1	P;D;D	0.52996	0.913;0.957;0.957	P;P;P	0.55222	0.729;0.771;0.729	T	0.81609	-0.0855	9	0.51188	T	0.08	0.7304	11.6596	0.51339	0.1323:0.0:0.0:0.8677	.	35;100;99	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	F	99;99;35	.	ENSP00000299259:I99F	I	-	1	0	COPS2	47219094	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.015000	0.59207	0.533000	0.62120	ATT	-	NULL		0.299	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	protein_coding	OTTHUMT00000417840.1	T	NM_004236	-		49431802	-1	no_errors	ENST00000299259	ensembl	human	known	74_37	missense	SNP	1.000	A
EPPK1	83481	genome.wustl.edu	37	8	144942969	144942969	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:144942969C>T	ENST00000525985.1	-	2	4524	c.4453G>A	c.(4453-4455)Gag>Aag	p.E1485K				P58107	EPIPL_HUMAN	epiplakin 1	1485						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCACCAGCTCCCGCCGCTTG	0.662																																																	0								ENSG00000227184						22.0	26.0	25.0					8																	144942969		2178	4273	6451	EPPK1	SO:0001583	missense	0			-	HGNC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4453G>A	8.37:g.144942969C>T	ENSP00000436337:p.Glu1485Lys	Somatic	0	20	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q76E58|Q9NSU9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Plectin_repeat,smart_Plectin_repeat	p.E1485K	ENST00000525985.1	37	c.4453		8	.	.	.	.	.	.	.	.	.	.	C	20.2	3.958037	0.73902	.	.	ENSG00000227184	ENST00000525985	T	0.71222	-0.55	4.39	4.39	0.52855	.	.	.	.	.	T	0.72439	0.3460	L	0.34521	1.04	0.33384	D	0.575214	D	0.67145	0.996	P	0.60415	0.874	T	0.74714	-0.3572	9	0.25106	T	0.35	.	14.5162	0.67821	0.0:1.0:0.0:0.0	.	1485	E9PPU0	.	K	1485	ENSP00000436337:E1485K	ENSP00000436337:E1485K	E	-	1	0	EPPK1	145014957	0.869000	0.29996	0.938000	0.37757	0.747000	0.42532	1.803000	0.38863	2.278000	0.76064	0.591000	0.81541	GAG	-	NULL		0.662	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	protein_coding	OTTHUMT00000382675.1	C	NM_031308	-		144942969	-1	no_errors	ENST00000525985	ensembl	human	known	74_37	missense	SNP	0.997	T
SLC6A4	6532	genome.wustl.edu	37	17	28548792	28548792	+	Missense_Mutation	SNP	G	G	A	rs201041934		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:28548792G>A	ENST00000401766.2	-	2	697	c.185C>T	c.(184-186)tCt>tTt	p.S62F	SLC6A4_ENST00000261707.3_Missense_Mutation_p.S62F			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	62					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	CGCTGGGATAGAGTGCCGTGT	0.557																																																	0								ENSG00000108576						237.0	205.0	216.0					17																	28548792		2203	4300	6503	SLC6A4	SO:0001583	missense	0			-	HGNC	L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.185C>T	17.37:g.28548792G>A	ENSP00000385822:p.Ser62Phe	Somatic	0	133	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76	Q5EE02	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N	p.S62F	ENST00000401766.2	37	c.185	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	G	14.82	2.650306	0.47362	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.66099	-0.19;-0.19	5.61	5.61	0.85477	Sodium:neurotransmitter symporter, serotonin, N-terminal (2);	1.206180	0.05501	N	0.558387	T	0.59046	0.2165	N	0.19112	0.55	0.20873	N	0.999837	B	0.29612	0.251	B	0.37780	0.258	T	0.55121	-0.8190	10	0.66056	D	0.02	.	13.893	0.63753	0.0751:0.0:0.9249:0.0	.	62	P31645	SC6A4_HUMAN	F	104;62;62	ENSP00000385822:S62F;ENSP00000261707:S62F	ENSP00000261707:S62F	S	-	2	0	SLC6A4	25572918	0.007000	0.16637	0.020000	0.16555	0.022000	0.10575	1.360000	0.34125	2.653000	0.90120	0.655000	0.94253	TCT	-	pfam_Na/ntran_symport_serotonin_N,prints_Na/ntran_symport_serotonin_N		0.557	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	protein_coding	OTTHUMT00000256115.3	G	NM_001045	-		28548792	-1	no_errors	ENST00000261707	ensembl	human	known	74_37	missense	SNP	0.193	A
STAC2	342667	genome.wustl.edu	37	17	37374401	37374401	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:37374401G>A	ENST00000333461.5	-	2	485	c.116C>T	c.(115-117)tCc>tTc	p.S39F		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	39					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						GGTCTTGAGGGAGAGGGAGCG	0.617																																																	0								ENSG00000141750						29.0	32.0	31.0					17																	37374401		2195	4286	6481	STAC2	SO:0001583	missense	0			-	HGNC	AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.116C>T	17.37:g.37374401G>A	ENSP00000327509:p.Ser39Phe	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q32MA3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.S39F	ENST00000333461.5	37	c.116	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	g	26.3	4.726919	0.89390	.	.	ENSG00000141750	ENST00000333461	D	0.85411	-1.98	5.43	5.43	0.79202	.	0.070853	0.56097	D	0.000022	D	0.91178	0.7221	L	0.59436	1.845	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	D	0.91853	0.5493	10	0.87932	D	0	-17.6673	18.0109	0.89222	0.0:0.0:1.0:0.0	.	39	Q6ZMT1	STAC2_HUMAN	F	39	ENSP00000327509:S39F	ENSP00000327509:S39F	S	-	2	0	STAC2	34627927	1.000000	0.71417	0.911000	0.35937	0.849000	0.48306	9.003000	0.93577	2.538000	0.85594	0.467000	0.42956	TCC	-	NULL		0.617	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	protein_coding	OTTHUMT00000444533.2	G	NM_198993	-		37374401	-1	no_errors	ENST00000333461	ensembl	human	known	74_37	missense	SNP	1.000	A
CRTAC1	55118	genome.wustl.edu	37	10	99664461	99664461	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:99664461G>A	ENST00000370597.3	-	7	1316	c.961C>T	c.(961-963)Ctg>Ttg	p.L321L	CRTAC1_ENST00000370591.2_Silent_p.L321L|CRTAC1_ENST00000298819.4_Silent_p.L321L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	321						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CTCATTTGCAGATAGAGGCGG	0.592																																																	0								ENSG00000095713						101.0	102.0	102.0					10																	99664461		2203	4300	6503	CRTAC1	SO:0001819	synonymous_variant	0			-	HGNC	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.961C>T	10.37:g.99664461G>A		Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	27	32.50	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom	p.L321	ENST00000370597.3	37	c.961	CCDS31266.1	10																																																																																			-	NULL		0.592	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	protein_coding	OTTHUMT00000049754.1	G	NM_018058	-		99664461	-1	no_errors	ENST00000370597	ensembl	human	known	74_37	silent	SNP	0.988	A
WDR87	83889	genome.wustl.edu	37	19	38383646	38383646	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:38383646G>A	ENST00000303868.5	-	4	2804	c.2580C>T	c.(2578-2580)gtC>gtT	p.V860V	WDR87_ENST00000447313.2_Silent_p.V899V	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	860										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CATCTGTAAGGACACTGTAGG	0.393																																																	0								ENSG00000171804						104.0	83.0	89.0					19																	38383646		692	1591	2283	WDR87	SO:0001819	synonymous_variant	0			-	HGNC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2580C>T	19.37:g.38383646G>A		Somatic	0	51	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	Q9BWV9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V899	ENST00000303868.5	37	c.2697	CCDS46063.1	19																																																																																			-	NULL		0.393	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	protein_coding	OTTHUMT00000314628.2	G	XM_940478	-		38383646	-1	no_errors	ENST00000447313	ensembl	human	known	74_37	silent	SNP	0.000	A
PRICKLE2	166336	genome.wustl.edu	37	3	64085357	64085357	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:64085357G>A	ENST00000295902.6	-	8	2490	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	PRICKLE2-AS1_ENST00000476308.1_RNA|PRICKLE2-AS1_ENST00000460946.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.S691S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	635					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TCCTTCCGTGGGACTGCAGGT	0.592																																																	0								ENSG00000163637						105.0	95.0	98.0					3																	64085357		2203	4300	6503	PRICKLE2	SO:0001819	synonymous_variant	0			-	HGNC	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.1905C>T	3.37:g.64085357G>A		Somatic	0	26	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	9	50.00	Q0VF44	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.S635	ENST00000295902.6	37	c.1905	CCDS2902.1	3																																																																																			-	NULL		0.592	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	PRICKLE2	protein_coding	OTTHUMT00000352219.1	G	NM_198859	-		64085357	-1	no_errors	ENST00000295902	ensembl	human	known	74_37	silent	SNP	0.854	A
TBX20	57057	genome.wustl.edu	37	7	35242097	35242097	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:35242097T>C	ENST00000408931.3	-	8	1815	c.1289A>G	c.(1288-1290)tAt>tGt	p.Y430C		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	430					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AATGGCAGCATAGGGCCCCTG	0.517																																																	0								ENSG00000164532						31.0	30.0	30.0					7																	35242097		1923	4126	6049	TBX20	SO:0001583	missense	0			-	HGNC	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1289A>G	7.37:g.35242097T>C	ENSP00000386170:p.Tyr430Cys	Somatic	0	90	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.Y430C	ENST00000408931.3	37	c.1289	CCDS43568.1	7	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122746	0.77436	.	.	ENSG00000164532	ENST00000408931	D	0.90676	-2.71	5.66	5.66	0.87406	.	0.273372	0.37577	N	0.002022	D	0.91955	0.7452	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.92881	0.6323	10	0.56958	D	0.05	.	15.8876	0.79264	0.0:0.0:0.0:1.0	.	430	Q9UMR3	TBX20_HUMAN	C	430	ENSP00000386170:Y430C	ENSP00000386170:Y430C	Y	-	2	0	TBX20	35208622	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	7.698000	0.84413	2.144000	0.66660	0.496000	0.49642	TAT	-	NULL		0.517	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX20	protein_coding	OTTHUMT00000216870.2	T	NM_020417	-		35242097	-1	no_errors	ENST00000408931	ensembl	human	known	74_37	missense	SNP	1.000	C
TECTA	7007	genome.wustl.edu	37	11	120983818	120983818	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:120983818C>T	ENST00000392793.1	+	5	795	c.524C>T	c.(523-525)tCc>tTc	p.S175F	TECTA_ENST00000264037.2_Missense_Mutation_p.S175F			O75443	TECTA_HUMAN	tectorin alpha	175	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCCGATGGCTCCTATACATTC	0.577											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000109927						102.0	85.0	91.0					11																	120983818		2203	4299	6502	TECTA	SO:0001583	missense	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.524C>T	11.37:g.120983818C>T	ENSP00000376543:p.Ser175Phe	Somatic	0	50	0.00	1508	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.S175F	ENST00000392793.1	37	c.524	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	C	9.425	1.084128	0.20309	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	T;T	0.74526	-0.85;-0.85	5.26	5.26	0.73747	Nidogen, extracellular domain (3);	0.396961	0.25948	N	0.027273	T	0.72598	0.3480	M	0.64997	1.995	0.27872	N	0.939983	B	0.22746	0.074	B	0.32677	0.15	T	0.61978	-0.6951	10	0.24483	T	0.36	.	12.8034	0.57598	0.0:0.9158:0.0:0.0842	.	175	O75443	TECTA_HUMAN	F	175	ENSP00000376543:S175F;ENSP00000264037:S175F	ENSP00000264037:S175F	S	+	2	0	TECTA	120489028	0.010000	0.17322	1.000000	0.80357	0.935000	0.57460	0.893000	0.28336	2.731000	0.93534	0.650000	0.86243	TCC	-	pfam_Nidogen_extracell_dom,smart_Nidogen_extracell_dom		0.577	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	C	NM_005422	-		120983818	+1	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	SNP	0.976	T
SLAMF1	6504	genome.wustl.edu	37	1	160589632	160589632	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:160589632C>T	ENST00000302035.6	-	5	1147	c.798G>A	c.(796-798)acG>acA	p.T266T	SLAMF1_ENST00000355199.3_Silent_p.T266T|SLAMF1_ENST00000235739.5_Silent_p.T236T|SLAMF1_ENST00000538290.1_Intron	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	266					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGTAATGGTTCGTTTTACCTG	0.438																																																	0								ENSG00000117090						235.0	233.0	234.0					1																	160589632		2203	4300	6503	SLAMF1	SO:0001819	synonymous_variant	0			-	HGNC	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.798G>A	1.37:g.160589632C>T		Somatic	0	123	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	Q5W172|Q9HBE8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sig_lymph_act_molc_N,pfscan_Ig-like_dom	p.T266	ENST00000302035.6	37	c.798	CCDS1207.1	1																																																																																			-	NULL		0.438	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLAMF1	protein_coding	OTTHUMT00000060454.1	C		-		160589632	-1	no_errors	ENST00000302035	ensembl	human	known	74_37	silent	SNP	0.004	T
RCN3	57333	genome.wustl.edu	37	19	50031746	50031746	+	Missense_Mutation	SNP	C	C	T	rs574372719		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50031746C>T	ENST00000270645.3	+	2	464	c.17C>T	c.(16-18)tCa>tTa	p.S6L		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	6						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGCGACCATCAGTTCTGCTG	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		14185	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000142552						177.0	186.0	183.0					19																	50031746		2203	4300	6503	RCN3	SO:0001583	missense	0			-	HGNC	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.17C>T	19.37:g.50031746C>T	ENSP00000270645:p.Ser6Leu	Somatic	0	39	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q9HBZ8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_EF_hand_dom,pfscan_EF_hand_dom	p.S6L	ENST00000270645.3	37	c.17	CCDS12771.1	19	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591583	0.28357	.	.	ENSG00000142552	ENST00000270645	T	0.10763	2.84	4.22	4.22	0.49857	.	0.479193	0.18606	N	0.136286	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29852	-0.9998	10	0.10902	T	0.67	-5.7809	14.5379	0.67973	0.0:1.0:0.0:0.0	.	6	Q96D15	RCN3_HUMAN	L	6	ENSP00000270645:S6L	ENSP00000270645:S6L	S	+	2	0	RCN3	54723558	0.006000	0.16342	0.004000	0.12327	0.199000	0.23934	1.845000	0.39279	2.389000	0.81357	0.456000	0.33151	TCA	-	NULL		0.667	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCN3	protein_coding	OTTHUMT00000465261.1	C	NM_020650	-		50031746	+1	no_errors	ENST00000270645	ensembl	human	known	74_37	missense	SNP	0.010	T
MGAT3	4248	genome.wustl.edu	37	22	39884372	39884372	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:39884372C>A	ENST00000341184.6	+	2	1235	c.1020C>A	c.(1018-1020)ttC>ttA	p.F340L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	340					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CCGAGCCCTTCGCCTTCCACA	0.627																																																	0								ENSG00000128268						75.0	78.0	77.0					22																	39884372		2203	4300	6503	MGAT3	SO:0001583	missense	0			-	HGNC	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1020C>A	22.37:g.39884372C>A	ENSP00000345270:p.Phe340Leu	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	23	23.33	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_trans_17	p.F340L	ENST00000341184.6	37	c.1020	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	C	9.401	1.077923	0.20227	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	3.26	0.37387	.	0.058810	0.64402	D	0.000002	T	0.39733	0.1089	L	0.41824	1.3	0.39979	D	0.974894	P	0.35011	0.48	B	0.35899	0.213	T	0.20140	-1.0284	9	0.20046	T	0.44	.	9.1326	0.36854	0.0:0.6623:0.0:0.3377	.	340	Q09327	MGAT3_HUMAN	L	340	.	ENSP00000345270:F340L	F	+	3	2	MGAT3	38214318	0.372000	0.25064	1.000000	0.80357	0.998000	0.95712	-0.243000	0.08915	1.282000	0.44496	0.561000	0.74099	TTC	-	pfam_Glyco_trans_17		0.627	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	protein_coding	OTTHUMT00000075039.2	C	NM_002409	-		39884372	+1	no_errors	ENST00000341184	ensembl	human	known	74_37	missense	SNP	1.000	A
LINC01219	104355220	genome.wustl.edu	37	11	2017396	2017396	+	lincRNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:2017396C>T	ENST00000418612.1	+	0	1444				H19_ENST00000390168.4_RNA																							CCGCTTCTTGCCGCAGCCCCA	0.632																																																	0								ENSG00000130600						15.0	15.0	15.0					11																	2017396		875	1989	2864	H19			0			-	HGNC																													11.37:g.2017396C>T		Somatic	0	181	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	78	22.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000418612.1	37	NULL		11																																																																																			-	-		0.632	AC051649.6-001	KNOWN	basic	lincRNA	H19	lincRNA	OTTHUMT00000034754.1	C		-		2017396	-1	no_errors	ENST00000411754	ensembl	human	known	74_37	rna	SNP	0.000	T
ACAN	176	genome.wustl.edu	37	15	89400698	89400698	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:89400698G>A	ENST00000561243.1	+	11	4882	c.4882G>A	c.(4882-4884)Gga>Aga	p.G1628R	ACAN_ENST00000559004.1_Missense_Mutation_p.G1628R|ACAN_ENST00000352105.7_Missense_Mutation_p.G1628R|ACAN_ENST00000439576.2_Missense_Mutation_p.G1628R			P16112	PGCA_HUMAN	aggrecan	1660	CS-2.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TCTTCCCTCTGGATTTAGTGG	0.532																																																	0								ENSG00000157766						137.0	142.0	141.0					15																	89400698		1917	4129	6046	ACAN	SO:0001583	missense	0			-	HGNC	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.4882G>A	15.37:g.89400698G>A	ENSP00000453342:p.Gly1628Arg	Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.G1628R	ENST00000561243.1	37	c.4882	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	G	16.10	3.025963	0.54683	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.21031	2.35;2.03	5.52	5.52	0.82312	.	0.269330	0.19891	N	0.103723	T	0.52837	0.1759	M	0.83223	2.63	0.36452	D	0.866146	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63550	-0.6612	10	0.87932	D	0	-11.0404	18.4332	0.90634	0.0:0.0:1.0:0.0	.	1628;1628	E7ENV9;E7EX88	.;.	R	1628;1628;1514	ENSP00000387356:G1628R;ENSP00000341615:G1628R	ENSP00000268134:G1514R	G	+	1	0	ACAN	87201702	1.000000	0.71417	0.992000	0.48379	0.397000	0.30659	4.912000	0.63335	2.612000	0.88384	0.655000	0.94253	GGA	-	NULL		0.532	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	G	NM_001135	-		89400698	+1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	1.000	A
C1orf85	112770	genome.wustl.edu	37	1	156263235	156263235	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:156263235A>T	ENST00000362007.1	-	5	957	c.931T>A	c.(931-933)Tac>Aac	p.Y311N	C1orf85_ENST00000482579.1_Intron	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	311					intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GGAAGAGAGTATGCTAAGGCA	0.582																																																	0								ENSG00000198715						90.0	101.0	98.0					1																	156263235		2203	4300	6503	C1orf85	SO:0001583	missense	0			-	HGNC	BC011575	CCDS1139.1, CCDS72947.1, CCDS72948.1, CCDS72949.1	1q22	2014-08-07			ENSG00000198715	ENSG00000198715			29436	protein-coding gene	gene with protein product	"""kidney lysosomal membrane protein"""					12975309, 18021396, 19489740	Standard	NM_144580		Approved	MGC31963, NCU-G1	uc001foh.4	Q8WWB7	OTTHUMG00000019789	ENST00000362007.1:c.931T>A	1.37:g.156263235A>T	ENSP00000354553:p.Tyr311Asn	Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	22	40.54	A6NH16|B4DJN4|Q5SZX4|Q6UX96|Q8IV07|Q96F65	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Y311N	ENST00000362007.1	37	c.931	CCDS1139.1	1	.	.	.	.	.	.	.	.	.	.	A	3.657	-0.070346	0.07228	.	.	ENSG00000198715	ENST00000362007	T	0.20200	2.09	5.38	1.81	0.25067	.	0.810972	0.11361	N	0.571871	T	0.07098	0.0180	L	0.53249	1.67	0.09310	N	1	B;B	0.20459	0.045;0.045	B;B	0.23852	0.049;0.049	T	0.38672	-0.9650	10	0.24483	T	0.36	-12.1969	6.9099	0.24329	0.7297:0.0:0.2703:0.0	.	230;311	Q8WWB7-2;Q8WWB7	.;NCUG1_HUMAN	N	311	ENSP00000354553:Y311N	ENSP00000354553:Y311N	Y	-	1	0	C1orf85	154529859	0.004000	0.15560	0.001000	0.08648	0.162000	0.22319	1.144000	0.31565	0.509000	0.28195	0.379000	0.24179	TAC	-	NULL		0.582	C1orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf85	protein_coding	OTTHUMT00000052108.1	A	NM_144580	-		156263235	-1	no_errors	ENST00000362007	ensembl	human	known	74_37	missense	SNP	0.001	T
C12orf4	57102	genome.wustl.edu	37	12	4609389	4609389	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:4609389C>A	ENST00000261250.3	-	11	1442	c.1355G>T	c.(1354-1356)gGa>gTa	p.G452V	C12orf4_ENST00000545746.1_Missense_Mutation_p.G452V|C12orf4_ENST00000509318.2_5'Flank	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	452										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		ATTTCGGAGTCCCATAATGGC	0.428																																																	0								ENSG00000047621						141.0	127.0	132.0					12																	4609389		2203	4300	6503	C12orf4	SO:0001583	missense	0			-	HGNC	AJ272205	CCDS8528.1	12p13.3	2012-08-10			ENSG00000047621	ENSG00000047621			1184	protein-coding gene	gene with protein product							Standard	NM_020374		Approved		uc001qms.3	Q9NQ89	OTTHUMG00000168258	ENST00000261250.3:c.1355G>T	12.37:g.4609389C>A	ENSP00000261250:p.Gly452Val	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	D3DUQ8|Q6MZH5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF2362	p.G452V	ENST00000261250.3	37	c.1355	CCDS8528.1	12	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504844	0.85176	.	.	ENSG00000047621	ENST00000261250;ENST00000545746	.	.	.	5.46	4.57	0.56435	.	0.108387	0.64402	D	0.000006	T	0.75932	0.3917	M	0.85462	2.755	0.80722	D	1	P	0.49447	0.924	P	0.52627	0.704	T	0.81293	-0.0998	9	0.87932	D	0	.	15.6221	0.76813	0.1387:0.8613:0.0:0.0	.	452	Q9NQ89	CL004_HUMAN	V	452	.	ENSP00000261250:G452V	G	-	2	0	C12orf4	4479650	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.742000	0.68646	1.280000	0.44463	0.591000	0.81541	GGA	-	pfam_DUF2362		0.428	C12orf4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf4	protein_coding	OTTHUMT00000398992.1	C	NM_020374	-		4609389	-1	no_errors	ENST00000261250	ensembl	human	known	74_37	missense	SNP	1.000	A
S100A16	140576	genome.wustl.edu	37	1	153580151	153580151	+	Silent	SNP	C	C	T	rs540582729		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153580151C>T	ENST00000368704.1	-	3	356	c.171G>A	c.(169-171)aaG>aaA	p.K57K	S100A16_ENST00000474991.1_5'UTR|S100A16_ENST00000368703.2_Silent_p.K57K|S100A16_ENST00000368705.2_Silent_p.K57K|S100A16_ENST00000368706.4_Silent_p.K57K			Q96FQ6	S10AG_HUMAN	S100 calcium binding protein A16	57	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				response to calcium ion (GO:0051592)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			breast(1)|large_intestine(1)|prostate(1)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TATCCGCAGCCTTCCGGTTCC	0.592																																					Melanoma(71;1388 1729 37039 46098)												0								ENSG00000188643						76.0	69.0	71.0					1																	153580151		2203	4300	6503	S100A16	SO:0001819	synonymous_variant	0			-	HGNC	BC010541	CCDS1045.1	1q21	2014-01-28			ENSG00000188643	ENSG00000188643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	20441	protein-coding gene	gene with protein product						9417904	Standard	NM_080388		Approved	S100F, DT1P1A7, MGC17528	uc001fcd.1	Q96FQ6	OTTHUMG00000013545	ENST00000368704.1:c.171G>A	1.37:g.153580151C>T		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A8K439|D3DV52|Q5RHS6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.K57	ENST00000368704.1	37	c.171	CCDS1045.1	1																																																																																			-	pfscan_EF_hand_dom		0.592	S100A16-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100A16	protein_coding	OTTHUMT00000037713.1	C	NM_080388	-		153580151	-1	no_errors	ENST00000368703	ensembl	human	known	74_37	silent	SNP	0.988	T
GABRG1	2565	genome.wustl.edu	37	4	46086053	46086053	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:46086053C>T	ENST00000295452.4	-	3	438	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	91					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACATCAGTTTCAATTACTGTG	0.289																																																	0								ENSG00000163285						42.0	41.0	41.0					4																	46086053		2200	4294	6494	GABRG1	SO:0001583	missense	0			-	HGNC	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.271G>A	4.37:g.46086053C>T	ENSP00000295452:p.Glu91Lys	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	31	36.73	Q5H9T8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E91K	ENST00000295452.4	37	c.271	CCDS3470.1	4	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238818	0.22711	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.77877	-1.13	4.96	4.96	0.65561	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	N	0.16708	0.43	0.53005	D	0.999967	P	0.45768	0.866	P	0.45660	0.489	T	0.63501	-0.6623	10	0.02654	T	1	.	11.422	0.49987	0.0:0.818:0.182:0.0	.	91	Q8N1C3	GBRG1_HUMAN	K	91	ENSP00000295452:E91K	ENSP00000295452:E91K	E	-	1	0	GABRG1	45780810	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	1.744000	0.38268	2.576000	0.86940	0.655000	0.94253	GAA	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.289	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG1	protein_coding	OTTHUMT00000250470.1	C	NM_173536	-		46086053	-1	no_errors	ENST00000295452	ensembl	human	known	74_37	missense	SNP	1.000	T
EBF3	253738	genome.wustl.edu	37	10	131639236	131639236	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:131639236G>A	ENST00000355311.5	-	14	1505	c.1433C>T	c.(1432-1434)cCc>cTc	p.P478L	EBF3_ENST00000368648.3_Missense_Mutation_p.P469L|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	478	Pro/Ser/Thr-rich.				multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GGACTGCTGGGGAGTACTGCT	0.532																																																	0								ENSG00000108001						173.0	162.0	166.0					10																	131639236		2203	4300	6503	EBF3	SO:0001583	missense	0			-	HGNC		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1433C>T	10.37:g.131639236G>A	ENSP00000347463:p.Pro478Leu	Somatic	0	130	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	40	16.67	A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IPT,superfamily_Ig_E-set,smart_IPT	p.P478L	ENST00000355311.5	37	c.1433		10	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838048	0.71373	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.48201	0.82;0.82	4.81	4.81	0.61882	.	0.051224	0.85682	D	0.000000	T	0.59197	0.2176	M	0.82630	2.6	0.80722	D	1	B	0.33826	0.427	B	0.38985	0.287	T	0.67138	-0.5746	10	0.87932	D	0	-17.7066	18.1072	0.89524	0.0:0.0:1.0:0.0	.	469	Q9H4W6-2	.	L	478;469	ENSP00000347463:P478L;ENSP00000357637:P469L	ENSP00000347463:P478L	P	-	2	0	EBF3	131529226	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.612000	0.98347	2.492000	0.84095	0.655000	0.94253	CCC	-	NULL		0.532	EBF3-001	KNOWN	basic|appris_principal	protein_coding	EBF3	protein_coding	OTTHUMT00000051015.2	G	NM_001005463	-		131639236	-1	no_errors	ENST00000355311	ensembl	human	known	74_37	missense	SNP	1.000	A
RBBP6	5930	genome.wustl.edu	37	16	24581514	24581514	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:24581514C>T	ENST00000319715.4	+	17	3935	c.3503C>T	c.(3502-3504)tCg>tTg	p.S1168L	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1134L	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1168					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATGAAAATCTCGAAACTAGAA	0.338																																																	0								ENSG00000122257						62.0	69.0	67.0					16																	24581514		2196	4298	6494	RBBP6	SO:0001583	missense	0			-	HGNC		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.3503C>T	16.37:g.24581514C>T	ENSP00000317872:p.Ser1168Leu	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.S1168L	ENST00000319715.4	37	c.3503	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	C	18.31	3.594973	0.66219	.	.	ENSG00000122257	ENST00000319715;ENST00000348022	T;T	0.15718	2.41;2.4	5.86	3.8	0.43715	.	0.362733	0.24735	N	0.036039	T	0.10937	0.0267	N	0.24115	0.695	0.27922	N	0.938219	B;B	0.15473	0.013;0.008	B;B	0.09377	0.004;0.002	T	0.11591	-1.0581	10	0.56958	D	0.05	-5.4837	7.5187	0.27616	0.1252:0.6866:0.121:0.0672	.	1134;1168	Q7Z6E9-2;Q7Z6E9	.;RBBP6_HUMAN	L	1168;1134	ENSP00000317872:S1168L;ENSP00000316291:S1134L	ENSP00000317872:S1168L	S	+	2	0	RBBP6	24489015	0.928000	0.31464	0.989000	0.46669	0.933000	0.57130	2.105000	0.41825	1.466000	0.48025	0.655000	0.94253	TCG	-	NULL		0.338	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	protein_coding	OTTHUMT00000214067.2	C	NM_006910	-		24581514	+1	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	SNP	0.802	T
INPP5D	3635	genome.wustl.edu	37	2	234106796	234106796	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234106796G>A	ENST00000359570.5	+	27	2713	c.2713G>A	c.(2713-2715)Gga>Aga	p.G905R	INPP5D_ENST00000455936.2_Missense_Mutation_p.G669R|INPP5D_ENST00000450745.1_Missense_Mutation_p.G669R			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	917					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAACTACATGGGAGTGGGGCC	0.622																																					NSCLC(82;1215 1426 16163 20348 41018)												0								ENSG00000168918						23.0	26.0	25.0					2																	234106796		1973	4159	6132	INPP5D	SO:0001583	missense	0			-	HGNC	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2713G>A	2.37:g.234106796G>A	ENSP00000352575:p.Gly905Arg	Somatic	0	138	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.G905R	ENST00000359570.5	37	c.2713		2	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031393	0.54790	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.97575	-4.37;-4.44;-4.44;-4.39;-4.39;-4.39	4.79	4.79	0.61399	.	0.000000	0.64402	D	0.000005	D	0.93051	0.7788	.	.	.	0.48135	D	0.999591	B;B	0.20261	0.033;0.043	B;B	0.22601	0.035;0.04	D	0.90089	0.4176	9	0.11794	T	0.64	.	15.3748	0.74596	0.0:0.0:1.0:0.0	.	916;917	Q92835-2;Q92835	.;SHIP1_HUMAN	R	905;669;669;538;538;538;39	ENSP00000352575:G905R;ENSP00000407916:G669R;ENSP00000404610:G669R;ENSP00000400151:G538R;ENSP00000397421:G538R;ENSP00000405338:G538R	ENSP00000352575:G905R	G	+	1	0	INPP5D	233771535	1.000000	0.71417	0.971000	0.41717	0.977000	0.68977	6.699000	0.74613	2.361000	0.80049	0.655000	0.94253	GGA	-	NULL		0.622	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	protein_coding		G	NM_001017915	-		234106796	+1	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	SNP	1.000	A
SSUH2	51066	genome.wustl.edu	37	3	8671360	8671360	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:8671360C>T	ENST00000317371.4	-	14	1737	c.512G>A	c.(511-513)gGg>gAg	p.G171E	SSUH2_ENST00000341795.3_Missense_Mutation_p.G171E|SSUH2_ENST00000415132.1_Missense_Mutation_p.G171E|SSUH2_ENST00000544814.1_Missense_Mutation_p.G193E			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	171	Cys-rich.					cytoplasm (GO:0005737)											CGTGCCCGCCCCGTGGCAGCC	0.627																																																	0								ENSG00000125046						78.0	82.0	81.0					3																	8671360		2203	4300	6503	SSUH2	SO:0001583	missense	0			-	HGNC	AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.512G>A	3.37:g.8671360C>T	ENSP00000324551:p.Gly171Glu	Somatic	0	95	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	53	43.01	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_HSP_DnaJ_Cys-rich_dom	p.G193E	ENST00000317371.4	37	c.578	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	C	15.87	2.961425	0.53400	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814	T;T;T;T	0.57907	0.37;0.37;0.38;0.37	4.68	4.68	0.58851	.	0.111334	0.64402	D	0.000010	T	0.73961	0.3654	M	0.86028	2.79	0.26657	N	0.971992	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69224	-0.5201	10	0.87932	D	0	-36.8868	13.1227	0.59336	0.0:1.0:0.0:0.0	.	193;171	F5H2S5;Q9Y2M2	.;CC032_HUMAN	E	171;171;171;193	ENSP00000339150:G171E;ENSP00000324551:G171E;ENSP00000410757:G171E;ENSP00000439378:G193E	ENSP00000324551:G171E	G	-	2	0	C3orf32	8646360	0.922000	0.31269	0.130000	0.21974	0.408000	0.30992	4.337000	0.59310	2.154000	0.67381	0.467000	0.42956	GGG	-	superfamily_HSP_DnaJ_Cys-rich_dom		0.627	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	protein_coding	OTTHUMT00000337900.1	C	NM_015931	-		8671360	-1	no_errors	ENST00000544814	ensembl	human	known	74_37	missense	SNP	0.338	T
ZNF721	170960	genome.wustl.edu	37	4	435581	435581	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:435581G>A	ENST00000338977.5	-	2	2687	c.2639C>T	c.(2638-2640)cCc>cTc	p.P880L	ZNF721_ENST00000511833.2_Missense_Mutation_p.P892L|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron			Q8TF20	ZN721_HUMAN	zinc finger protein 721	880					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACACGTGTAGGGTTTCTCTCC	0.388																																																	0								ENSG00000182903						63.0	67.0	66.0					4																	435581		2026	4211	6237	ZNF721	SO:0001583	missense	0			-	HGNC	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2639C>T	4.37:g.435581G>A	ENSP00000340524:p.Pro880Leu	Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	38	20.83	Q69YG7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P892L	ENST00000338977.5	37	c.2675		4	.	.	.	.	.	.	.	.	.	.	G	10.12	1.263374	0.23051	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.27557	1.66;1.66	0.539	-0.535	0.11879	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40815	0.1132	L	0.58354	1.805	0.34703	D	0.726993	D;D;D	0.76494	0.999;0.999;0.999	D;D;P	0.64237	0.923;0.923;0.874	T	0.50717	-0.8795	9	0.62326	D	0.03	.	4.4468	0.11602	0.3168:0.0:0.6832:0.0	.	880;892;892	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	L	880;892	ENSP00000340524:P880L;ENSP00000428878:P892L	ENSP00000340524:P880L	P	-	2	0	ZNF721	425581	0.979000	0.34478	0.097000	0.21041	0.117000	0.20001	2.100000	0.41777	-0.323000	0.08602	0.205000	0.17691	CCC	-	pfscan_Znf_C2H2		0.388	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	ZNF721	protein_coding	OTTHUMT00000357939.1	G	NM_133474	-		435581	-1	no_errors	ENST00000511833	ensembl	human	known	74_37	missense	SNP	0.872	A
TNFRSF1A	7132	genome.wustl.edu	37	12	6438569	6438569	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:6438569C>T	ENST00000162749.2	-	10	1576	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	TNFRSF1A_ENST00000540022.1_Missense_Mutation_p.R383H|TNFRSF1A_ENST00000437813.3_5'Flank	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	426	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|positive regulation of angiogenesis (GO:0045766)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|prostaglandin metabolic process (GO:0006693)|protein heterooligomerization (GO:0051291)|response to alkaloid (GO:0043279)|response to amino acid (GO:0043200)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to wounding (GO:0009611)|tetrapyrrole metabolic process (GO:0033013)|viral process (GO:0016032)	axon (GO:0030424)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	tumor necrosis factor-activated receptor activity (GO:0005031)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GTCCATGTCGCGGAGCACGCG	0.741																																																	0								ENSG00000067182						6.0	8.0	7.0					12																	6438569		2091	4057	6148	TNFRSF1A	SO:0001583	missense	0			-	HGNC	M75866	CCDS8542.1	12p13.2	2014-09-17			ENSG00000067182	ENSG00000067182		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11916	protein-coding gene	gene with protein product		191190		TNFR1		1655358, 2158863	Standard	NM_001065		Approved	TNF-R, TNFAR, TNFR60, TNF-R-I, CD120a, TNF-R55	uc001qnu.3	P19438	OTTHUMG00000168267	ENST00000162749.2:c.1277G>A	12.37:g.6438569C>T	ENSP00000162749:p.Arg426His	Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	21	38.24	A8K4X3|B2RDE4|B3KPQ1|B4DQB7|B4E309|B5M0B5|D3DUR1|Q9UCA4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A	p.R426H	ENST00000162749.2	37	c.1277	CCDS8542.1	12	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579920	0.65992	.	.	ENSG00000067182	ENST00000162749;ENST00000540022	D;D	0.86627	-2.15;-2.15	4.88	1.95	0.26073	Death (3);DEATH-like (2);	1.779650	0.02249	N	0.066459	D	0.88062	0.6336	L	0.33189	0.99	0.09310	N	0.999994	D;P	0.76494	0.999;0.9	P;P	0.58660	0.843;0.497	T	0.74535	-0.3633	10	0.37606	T	0.19	-5.9352	7.3915	0.26913	0.0:0.6867:0.1427:0.1707	.	383;426	F5H061;P19438	.;TNR1A_HUMAN	H	426;383	ENSP00000162749:R426H;ENSP00000438343:R383H	ENSP00000162749:R426H	R	-	2	0	TNFRSF1A	6308830	0.007000	0.16637	0.269000	0.24586	0.941000	0.58515	1.156000	0.31712	0.551000	0.29008	0.561000	0.74099	CGC	-	pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain		0.741	TNFRSF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1A	protein_coding	OTTHUMT00000399038.1	C	NM_001065	-		6438569	-1	no_errors	ENST00000162749	ensembl	human	known	74_37	missense	SNP	0.020	T
PRR23A	729627	genome.wustl.edu	37	3	138724603	138724603	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:138724603C>T	ENST00000383163.2	-	1	507	c.508G>A	c.(508-510)Gac>Aac	p.D170N	MRPS22_ENST00000495075.1_5'Flank	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	170										endometrium(3)|kidney(1)|lung(7)	11						GCTGCGGAGTCCATCTGGAGC	0.657																																																	0								ENSG00000206260						23.0	28.0	27.0					3																	138724603		692	1591	2283	PRR23A	SO:0001583	missense	0			-	HGNC		CCDS46923.1	3q22.3	2014-06-03				ENSG00000206260			37172	protein-coding gene	gene with protein product							Standard	NM_001134659		Approved		uc011bms.2	A6NEV1		ENST00000383163.2:c.508G>A	3.37:g.138724603C>T	ENSP00000372649:p.Asp170Asn	Somatic	0	83	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	52	14.75		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UPF0572	p.D170N	ENST00000383163.2	37	c.508	CCDS46923.1	3	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797050	0.31777	.	.	ENSG00000206260	ENST00000383163	.	.	.	3.09	1.14	0.20703	.	2.514840	0.01946	N	0.042296	T	0.34135	0.0887	L	0.43923	1.385	0.09310	N	1	B	0.25850	0.136	B	0.20955	0.032	T	0.10042	-1.0647	9	0.31617	T	0.26	.	3.9326	0.09292	0.0:0.5159:0.33:0.154	.	170	A6NEV1	PR23A_HUMAN	N	170	.	ENSP00000372649:D170N	D	-	1	0	PRR23A	140207293	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.128000	0.15810	0.273000	0.22049	0.491000	0.48974	GAC	-	pfam_UPF0572		0.657	PRR23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23A	protein_coding	OTTHUMT00000361503.1	C	NM_001134659	-		138724603	-1	no_errors	ENST00000383163	ensembl	human	known	74_37	missense	SNP	0.000	T
MICALL2	79778	genome.wustl.edu	37	7	1484937	1484937	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:1484937G>A	ENST00000297508.7	-	6	944	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S	MICALL2_ENST00000405088.4_Missense_Mutation_p.P45S	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	257	Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GGCTGTCGGGGGACCAGACCC	0.682																																																	0								ENSG00000164877						18.0	19.0	18.0					7																	1484937		2175	4268	6443	MICALL2	SO:0001583	missense	0			-	HGNC	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.769C>T	7.37:g.1484937G>A	ENSP00000297508:p.Pro257Ser	Somatic	1	265	0.38		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	134	16.67	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.P257S	ENST00000297508.7	37	c.769	CCDS5324.1	7	.	.	.	.	.	.	.	.	.	.	G	7.747	0.702536	0.15172	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.69435	2.95;-0.4	4.12	-2.71	0.05986	.	1.160740	0.06768	N	0.783039	T	0.36908	0.0984	N	0.11201	0.11	0.09310	N	1	B	0.15473	0.013	B	0.16289	0.015	T	0.30995	-0.9959	10	0.02654	T	1	.	4.7128	0.12880	0.4676:0.3112:0.2212:0.0	.	257	Q8IY33	MILK2_HUMAN	S	45;257	ENSP00000385928:P45S;ENSP00000297508:P257S	ENSP00000297508:P257S	P	-	1	0	MICALL2	1451463	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.297000	0.08276	-0.510000	0.06523	-0.315000	0.08773	CCC	-	NULL		0.682	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICALL2	protein_coding	OTTHUMT00000239223.2	G	NM_182924	-		1484937	-1	no_errors	ENST00000297508	ensembl	human	known	74_37	missense	SNP	0.000	A
MACF1	23499	genome.wustl.edu	37	1	39908410	39908410	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:39908410C>T	ENST00000372915.3	+	77	18913	c.18826C>T	c.(18826-18828)Cat>Tat	p.H6276Y	MACF1_ENST00000564288.1_Missense_Mutation_p.H6377Y|MACF1_ENST00000361689.2_Missense_Mutation_p.H4318Y|MACF1_ENST00000539005.1_Missense_Mutation_p.H4188Y|MACF1_ENST00000317713.7_Missense_Mutation_p.H4318Y|MACF1_ENST00000545844.1_Missense_Mutation_p.H4318Y|MACF1_ENST00000289893.4_Missense_Mutation_p.H4820Y|MACF1_ENST00000567887.1_Missense_Mutation_p.H6414Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6276					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTTTGGCTCATCAAGCCAC	0.393																																																	0								ENSG00000127603						50.0	49.0	49.0					1																	39908410		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18826C>T	1.37:g.39908410C>T	ENSP00000362006:p.His6276Tyr	Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.H4318Y	ENST00000372915.3	37	c.12952		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.820425|4.820425	0.90873|0.90873	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.53423|.	1.26;0.62;1.26;1.26;1.26;0.62|.	5.82|5.82	5.82|5.82	0.92795|0.92795	.|.	0.000000|.	0.64402|.	D|.	0.000005|.	D|D	0.83644|0.83644	0.5299|0.5299	M|M	0.85859|0.85859	2.78|2.78	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.97110|.	0.995;1.0|.	D|D	0.84277|0.84277	0.0492|0.0492	10|5	0.87932|.	D|.	0|.	.|.	20.0991|20.0991	0.97865|0.97865	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	6276;4318|.	Q9UPN3;F8W8Q1|.	MACF1_HUMAN;.|.	Y|L	4318;6276;4318;4318;4188;4820|3321	ENSP00000439537:H4318Y;ENSP00000362006:H6276Y;ENSP00000354573:H4318Y;ENSP00000313438:H4318Y;ENSP00000444364:H4188Y;ENSP00000289893:H4820Y|.	ENSP00000289893:H4820Y|.	H|S	+|+	1|2	0|0	MACF1|MACF1	39680997|39680997	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.487000|7.487000	0.81328|0.81328	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	CAT|TCA	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.393	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	C	NM_033044	-		39908410	+1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	1.000	T
USP26	83844	genome.wustl.edu	37	X	132161247	132161247	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:132161247G>A	ENST00000511190.1	-	6	1471	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	USP26_ENST00000370832.1_Silent_p.P334P|USP26_ENST00000406273.1_Silent_p.P334P	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	334	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GAGCATTAAGGGGAATTTTAC	0.363																																					NSCLC(104;342 1621 36940 47097 52632)												0								ENSG00000134588						32.0	34.0	33.0					X																	132161247		2189	4274	6463	USP26	SO:0001819	synonymous_variant	0			-	HGNC	AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.1002C>T	X.37:g.132161247G>A		Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	17	50.00	B9WRT6|Q5H9H4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P334	ENST00000511190.1	37	c.1002	CCDS14635.1	X																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.363	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	protein_coding	OTTHUMT00000359441.1	G	NM_031907	-		132161247	-1	no_errors	ENST00000370832	ensembl	human	known	74_37	silent	SNP	0.031	A
ARHGAP5	394	genome.wustl.edu	37	14	32560023	32560023	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:32560023T>C	ENST00000345122.3	+	2	463	c.148T>C	c.(148-150)Tat>Cat	p.Y50H	ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.Y50H|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.Y50H|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.Y50H	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	50					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATGAATATTATCCAGAGCA	0.383																																					NSCLC(9;77 350 3443 29227 41353)												0								ENSG00000100852						129.0	123.0	125.0					14																	32560023		2203	4300	6503	ARHGAP5	SO:0001583	missense	0			-	HGNC	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.148T>C	14.37:g.32560023T>C	ENSP00000371897:p.Tyr50His	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.Y50H	ENST00000345122.3	37	c.148	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	T	0.444	-0.897218	0.02472	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921;ENST00000556191	T;T;T;T;T	0.79940	-1.32;-1.32;-1.32;-1.32;1.0	5.55	4.33	0.51752	.	0.122426	0.56097	D	0.000023	T	0.62853	0.2462	N	0.19112	0.55	0.54753	D	0.999983	B;B	0.09022	0.002;0.001	B;B	0.12156	0.007;0.005	T	0.56709	-0.7934	10	0.02654	T	1	.	11.4836	0.50339	0.1345:0.0:0.0:0.8655	.	50;50	Q13017-2;Q13017	.;RHG05_HUMAN	H	50	ENSP00000452222:Y50H;ENSP00000441692:Y50H;ENSP00000371897:Y50H;ENSP00000393307:Y50H;ENSP00000451579:Y50H	ENSP00000371897:Y50H	Y	+	1	0	ARHGAP5	31629774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.078000	0.64425	2.098000	0.63641	0.528000	0.53228	TAT	-	superfamily_P-loop_NTPase		0.383	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	protein_coding	OTTHUMT00000409735.1	T	NM_001030055	-		32560023	+1	no_errors	ENST00000345122	ensembl	human	known	74_37	missense	SNP	1.000	C
OR2L3	391192	genome.wustl.edu	37	1	248224295	248224295	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:248224295G>A	ENST00000359959.3	+	1	312	c.312G>A	c.(310-312)tcG>tcA	p.S104S	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	104			S -> L (in dbSNP:rs6658256).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTTCTTCTCGGCATTAGGAG	0.433																																																	0								ENSG00000198128						197.0	240.0	225.0					1																	248224295		2203	4300	6503	OR2L3	SO:0001819	synonymous_variant	0			-	HGNC	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.312G>A	1.37:g.248224295G>A		Somatic	0	130	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	61	30.68	B9EH44	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S104	ENST00000359959.3	37	c.312	CCDS31104.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	protein_coding	OTTHUMT00000096852.1	G	NM_001004687	-		248224295	+1	no_errors	ENST00000359959	ensembl	human	known	74_37	silent	SNP	0.000	A
ZNF681	148213	genome.wustl.edu	37	19	23927344	23927344	+	Missense_Mutation	SNP	T	T	G	rs112856587	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:23927344T>G	ENST00000402377.3	-	4	1149	c.1008A>C	c.(1006-1008)aaA>aaC	p.K336N	ZNF681_ENST00000395385.3_Missense_Mutation_p.K267N	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	336					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K336K(1)|p.K267K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTTGTAGGGTTTCTCTCCAG	0.403																																																	2	Substitution - coding silent(2)	prostate(2)						ENSG00000196172						88.0	91.0	90.0					19																	23927344		2203	4298	6501	ZNF681	SO:0001583	missense	0			-	HGNC	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1008A>C	19.37:g.23927344T>G	ENSP00000384000:p.Lys336Asn	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	B3KVF7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K336N	ENST00000402377.3	37	c.1008	CCDS12414.2	19	.	.	.	.	.	.	.	.	.	.	.	12.41	1.928756	0.34002	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.26067	1.76;1.76	0.946	-0.332	0.12675	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40743	0.1129	M	0.64080	1.96	0.25157	N	0.990387	D	0.89917	1.0	D	0.85130	0.997	T	0.20974	-1.0259	9	0.87932	D	0	.	4.2632	0.10750	0.0:0.2516:0.0:0.7484	.	336	Q96N22	ZN681_HUMAN	N	336;267	ENSP00000384000:K336N;ENSP00000378783:K267N	ENSP00000378783:K267N	K	-	3	2	ZNF681	23719184	0.021000	0.18746	0.010000	0.14722	0.006000	0.05464	-0.208000	0.09371	-0.172000	0.10779	0.260000	0.18958	AAA	-	pfscan_Znf_C2H2		0.403	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	protein_coding	OTTHUMT00000320248.2	T	NM_138286	-		23927344	-1	no_errors	ENST00000402377	ensembl	human	known	74_37	missense	SNP	0.970	G
ERC1	23085	genome.wustl.edu	37	12	1192706	1192706	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:1192706T>C	ENST00000397203.2	+	3	1452	c.1046T>C	c.(1045-1047)cTt>cCt	p.L349P	ERC1_ENST00000546231.2_Missense_Mutation_p.L349P|ERC1_ENST00000360905.4_Missense_Mutation_p.L349P|ERC1_ENST00000543086.3_Missense_Mutation_p.L349P|ERC1_ENST00000355446.5_Missense_Mutation_p.L349P|ERC1_ENST00000589028.1_Missense_Mutation_p.L349P			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	349					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			CTAGAAAGCCTTTTGGAGCAG	0.408																																																	0								ENSG00000082805						100.0	95.0	96.0					12																	1192706		2203	4300	6503	ERC1	SO:0001583	missense	0			-	HGNC	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.1046T>C	12.37:g.1192706T>C	ENSP00000380386:p.Leu349Pro	Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin	p.L349P	ENST00000397203.2	37	c.1046	CCDS8508.1	12	.	.	.	.	.	.	.	.	.	.	T	22.5	4.293774	0.80914	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.67163	0.2864	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;1.0;1.0	D;D;D;D	0.91635	0.956;0.999;0.999;0.995	T	0.65038	-0.6265	10	0.30854	T	0.27	-4.0731	15.9948	0.80232	0.0:0.0:0.0:1.0	.	125;349;349;349	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	P	349;349;349;349;349;349;349;349;349;349;125	ENSP00000340054:L349P;ENSP00000380386:L349P;ENSP00000438546:L349P;ENSP00000445336:L349P;ENSP00000442739:L349P;ENSP00000347621:L349P;ENSP00000354158:L349P;ENSP00000410064:L349P	ENSP00000340054:L349P	L	+	2	0	ERC1	1062967	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.994000	0.88315	2.234000	0.73211	0.533000	0.62120	CTT	-	pfam_CAZ_cplx_RIM-bd_prot		0.408	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC1	protein_coding	OTTHUMT00000398380.2	T	NM_015064	-		1192706	+1	no_errors	ENST00000360905	ensembl	human	known	74_37	missense	SNP	1.000	C
GAD1	2571	genome.wustl.edu	37	2	171702556	171702556	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:171702556C>T	ENST00000358196.3	+	10	1535	c.985C>T	c.(985-987)Ctt>Ttt	p.L329F		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	329					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.L329I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						GGCAAAAATTCTTGAAGCCAA	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000128683						63.0	67.0	66.0					2																	171702556		2203	4300	6503	GAD1	SO:0001583	missense	0			-	HGNC		CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.985C>T	2.37:g.171702556C>T	ENSP00000350928:p.Leu329Phe	Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.L329F	ENST00000358196.3	37	c.985	CCDS2239.1	2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086195	0.36855	.	.	ENSG00000128683	ENST00000358196	T	0.38077	1.16	5.91	4.12	0.48240	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.179257	0.44483	D	0.000454	T	0.46054	0.1373	M	0.82193	2.58	0.80722	D	1	P	0.34934	0.476	B	0.41691	0.364	T	0.42799	-0.9430	10	0.49607	T	0.09	-7.902	9.4119	0.38496	0.1185:0.7552:0.0:0.1263	.	329	Q99259	DCE1_HUMAN	F	329	ENSP00000350928:L329F	ENSP00000350928:L329F	L	+	1	0	GAD1	171410802	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	0.872000	0.28037	0.842000	0.35045	-0.126000	0.14955	CTT	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase		0.348	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	protein_coding	OTTHUMT00000102664.2	C		-		171702556	+1	no_errors	ENST00000358196	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF683	257101	genome.wustl.edu	37	1	26694992	26694992	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:26694992G>A	ENST00000436292.1	-	2	191	c.71C>T	c.(70-72)tCc>tTc	p.S24F	ZNF683_ENST00000349618.3_Missense_Mutation_p.S24F|ZNF683_ENST00000403843.1_Missense_Mutation_p.S24F|ZNF683_ENST00000374204.1_Missense_Mutation_p.S24F			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	24					natural killer cell differentiation (GO:0001779)|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(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGGACAGGGAGCCCCCTGT	0.547																																																	0								ENSG00000176083						101.0	99.0	100.0					1																	26694992		2203	4300	6503	ZNF683	SO:0001583	missense	0			-	HGNC	BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.71C>T	1.37:g.26694992G>A	ENSP00000388792:p.Ser24Phe	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S24F	ENST00000436292.1	37	c.71		1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341884	0.61073	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000374203;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975;ENST00000453132;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T;T;T	0.46063	2.38;2.38;2.29;2.29;1.46;1.47;1.1;0.88;1.06;1.08	4.97	4.97	0.65823	.	0.000000	0.40469	N	0.001086	T	0.50854	0.1640	L	0.27053	0.805	0.19575	N	0.999969	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.97	T	0.45659	-0.9246	10	0.87932	D	0	-17.8519	14.0719	0.64865	0.0:0.0:1.0:0.0	.	24;24	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	F	24;24;24;24;24;32;24;24;24;32;24	ENSP00000384782:S24F;ENSP00000388792:S24F;ENSP00000363320:S24F;ENSP00000344095:S24F;ENSP00000411289:S32F;ENSP00000411290:S24F;ENSP00000412881:S24F;ENSP00000406734:S24F;ENSP00000391584:S32F;ENSP00000401961:S24F	ENSP00000344095:S24F	S	-	2	0	ZNF683	26567579	0.517000	0.26226	0.077000	0.20336	0.011000	0.07611	2.332000	0.43903	2.470000	0.83445	0.563000	0.77884	TCC	-	NULL		0.547	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF683	protein_coding	OTTHUMT00000009794.2	G	NM_173574	-		26694992	-1	no_errors	ENST00000403843	ensembl	human	known	74_37	missense	SNP	0.294	A
PKD2	5311	genome.wustl.edu	37	4	88957450	88957450	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:88957450C>T	ENST00000237596.2	+	3	854	c.788C>T	c.(787-789)tCc>tTc	p.S263F		NM_000297.3	NP_000288.1	Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ACCCCCGTGTCCAAAACGGAG	0.423																																																	0								ENSG00000118762						129.0	121.0	124.0					4																	88957450		2203	4300	6503	PKD2	SO:0001583	missense	0			-	HGNC	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000237596.2:c.788C>T	4.37:g.88957450C>T	ENSP00000237596:p.Ser263Phe	Somatic	0	21	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PKD1_2_channel,pfam_Ion_trans_dom,pfscan_EF_hand_dom,prints_PKD_2,prints_PKD_1	p.S263F	ENST00000237596.2	37	c.788	CCDS3627.1	4	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745852	0.49151	.	.	ENSG00000118762	ENST00000237596	T	0.67345	-0.26	5.56	4.73	0.59995	.	0.106561	0.64402	D	0.000002	T	0.79269	0.4417	M	0.75447	2.3	0.80722	D	1	D	0.69078	0.997	P	0.62491	0.903	T	0.81771	-0.0780	10	0.62326	D	0.03	-15.6124	14.598	0.68419	0.0:0.93:0.0:0.07	.	263	Q13563	PKD2_HUMAN	F	263	ENSP00000237596:S263F	ENSP00000237596:S263F	S	+	2	0	PKD2	89176474	1.000000	0.71417	0.331000	0.25455	0.143000	0.21401	7.729000	0.84864	1.353000	0.45828	-0.150000	0.13652	TCC	-	NULL		0.423	PKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2	protein_coding	OTTHUMT00000253042.4	C	NM_000297	-		88957450	+1	no_errors	ENST00000237596	ensembl	human	known	74_37	missense	SNP	0.999	T
RERGL	79785	genome.wustl.edu	37	12	18234192	18234192	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:18234192G>A	ENST00000229002.2	-	6	757	c.551C>T	c.(550-552)cCc>cTc	p.P184L	RERGL_ENST00000541632.1_5'Flank|RERGL_ENST00000538724.1_Missense_Mutation_p.P183L	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	184	Small GTPase-like.				GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	GTP binding (GO:0005525)	p.P184L(2)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AGATCCACTGGGACGTCTCTT	0.383																																																	2	Substitution - Missense(2)	prostate(2)						ENSG00000111404						123.0	117.0	119.0					12																	18234192		2203	4300	6503	RERGL	SO:0001583	missense	0			-	HGNC	AK026308	CCDS8679.1, CCDS66332.1	12p12.3	2014-08-12			ENSG00000111404	ENSG00000111404			26213	protein-coding gene	gene with protein product						24127187	Standard	NM_001286201		Approved	FLJ22655	uc001rdq.3	Q9H628	OTTHUMG00000168820	ENST00000229002.2:c.551C>T	12.37:g.18234192G>A	ENSP00000229002:p.Pro184Leu	Somatic	0	99	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type	p.P184L	ENST00000229002.2	37	c.551	CCDS8679.1	12	.	.	.	.	.	.	.	.	.	.	G	7.671	0.687045	0.14973	.	.	ENSG00000111404	ENST00000229002;ENST00000538724	T;T	0.78481	-1.18;-1.18	4.58	3.68	0.42216	.	0.605186	0.16892	N	0.195265	T	0.59293	0.2183	N	0.08118	0	0.80722	D	1	B;B	0.28713	0.0;0.22	B;B	0.28139	0.002;0.086	T	0.55166	-0.8183	10	0.29301	T	0.29	.	13.0344	0.58862	0.0:0.0:0.8381:0.1619	.	183;184	F5H686;Q9H628	.;RERGL_HUMAN	L	184;183	ENSP00000229002:P184L;ENSP00000437814:P183L	ENSP00000229002:P184L	P	-	2	0	RERGL	18125459	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	3.484000	0.53201	1.203000	0.43233	0.563000	0.77884	CCC	-	superfamily_P-loop_NTPase		0.383	RERGL-001	KNOWN	basic|CCDS	protein_coding	RERGL	protein_coding	OTTHUMT00000401198.1	G	NM_024730	-		18234192	-1	no_errors	ENST00000229002	ensembl	human	known	74_37	missense	SNP	1.000	A
DLGAP3	58512	genome.wustl.edu	37	1	35370210	35370210	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:35370210C>T	ENST00000373347.1	-	3	1043	c.775G>A	c.(775-777)Ggc>Agc	p.G259S	DLGAP3_ENST00000235180.4_Missense_Mutation_p.G259S|DLGAP3_ENST00000495979.1_5'Flank			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	259					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CTCCACCAGCCTGTGGACTTG	0.657																																																	0								ENSG00000116544						126.0	115.0	119.0					1																	35370210		2203	4300	6503	DLGAP3	SO:0001583	missense	0			-	HGNC	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.775G>A	1.37:g.35370210C>T	ENSP00000362444:p.Gly259Ser	Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	Q5TDD5|Q9H3X7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GKAP	p.G259S	ENST00000373347.1	37	c.775	CCDS30670.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889477	0.72524	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.49139	0.79;0.79	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.41906	1.305	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.58434	-0.7637	10	0.36615	T	0.2	-17.477	18.7023	0.91625	0.0:1.0:0.0:0.0	.	259	O95886	DLGP3_HUMAN	S	259	ENSP00000362444:G259S;ENSP00000235180:G259S	ENSP00000235180:G259S	G	-	1	0	DLGAP3	35142797	1.000000	0.71417	0.965000	0.40720	0.714000	0.41099	7.185000	0.77714	2.492000	0.84095	0.655000	0.94253	GGC	-	NULL		0.657	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	protein_coding	OTTHUMT00000011554.1	C	NM_021234	-		35370210	-1	no_errors	ENST00000235180	ensembl	human	known	74_37	missense	SNP	1.000	T
LRSAM1	90678	genome.wustl.edu	37	9	130216787	130216787	+	5'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:130216787C>T	ENST00000323301.4	+	0	585				LRSAM1_ENST00000300417.6_5'UTR|LRSAM1_ENST00000373322.1_5'UTR|LRSAM1_ENST00000373324.4_5'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1						cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TCCTAAAGATCGCTCTGGGAA	0.562																																																	0								ENSG00000148356						74.0	75.0	75.0					9																	130216787		2203	4300	6503	LRSAM1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.-20C>T	9.37:g.130216787C>T		Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000323301.4	37	NULL	CCDS6873.1	9																																																																																			-	-		0.562	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	protein_coding	OTTHUMT00000054164.1	C	NM_138361	-		130216787	+1	no_errors	ENST00000485704	ensembl	human	known	74_37	rna	SNP	0.000	T
PGS1	9489	genome.wustl.edu	37	17	76399984	76399984	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:76399984T>A	ENST00000262764.6	+	7	1242	c.1216T>A	c.(1216-1218)Tac>Aac	p.Y406N	PGS1_ENST00000329897.7_Missense_Mutation_p.Y271N|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	406					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCGGGCTGAGTACCAGATCCT	0.617																																					Esophageal Squamous(45;182 1126 10685 43198)												0								ENSG00000087157						79.0	82.0	81.0					17																	76399984		1996	4148	6144	PGS1	SO:0001583	missense	0			-	HGNC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1216T>A	17.37:g.76399984T>A	ENSP00000262764:p.Tyr406Asn	Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_PLipase-D_PtdSer-synthase-type,pfscan_PLipase_D/transphosphatidylase	p.Y406N	ENST00000262764.6	37	c.1216	CCDS42391.1	17	.	.	.	.	.	.	.	.	.	.	T	24.5	4.535537	0.85812	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	D;D	0.91740	-2.9;-2.9	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.93009	0.7775	L	0.33189	0.99	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.91878	0.5513	10	0.28530	T	0.3	-11.517	15.7604	0.78076	0.0:0.0:0.0:1.0	.	406	Q32NB8	PGPS1_HUMAN	N	406;271	ENSP00000262764:Y406N;ENSP00000330039:Y271N	ENSP00000262764:Y406N	Y	+	1	0	PGS1	73911579	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.646000	0.83445	2.125000	0.65367	0.460000	0.39030	TAC	-	pirsf_PLipase-D_PtdSer-synthase-type		0.617	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGS1	protein_coding	OTTHUMT00000437301.1	T	NM_024419	-		76399984	+1	no_errors	ENST00000262764	ensembl	human	known	74_37	missense	SNP	1.000	A
FREM1	158326	genome.wustl.edu	37	9	14823256	14823256	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:14823256C>A	ENST00000380880.3	-	13	3022	c.2239G>T	c.(2239-2241)Gtc>Ttc	p.V747F	FREM1_ENST00000380881.4_Missense_Mutation_p.V748F|FREM1_ENST00000422223.2_Missense_Mutation_p.V747F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	747					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GTGAACTGGACATCTCTGCAA	0.458																																																	0								ENSG00000164946						204.0	194.0	197.0					9																	14823256		1944	4146	6090	FREM1	SO:0001583	missense	0			-	HGNC	AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.2239G>T	9.37:g.14823256C>A	ENSP00000370262:p.Val747Phe	Somatic	0	83	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.V748F	ENST00000380880.3	37	c.2242	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046209	0.36085	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.29397	1.57;1.57;1.57	5.5	4.61	0.57282	.	0.102747	0.64402	D	0.000003	T	0.45975	0.1369	M	0.80183	2.485	0.45330	D	0.998329	P	0.42556	0.783	P	0.48654	0.585	T	0.51545	-0.8692	10	0.72032	D	0.01	-15.1691	11.9002	0.52680	0.0:0.8587:0.0:0.1413	.	747	Q5H8C1	FREM1_HUMAN	F	748;747;747	ENSP00000370263:V748F;ENSP00000412940:V747F;ENSP00000370262:V747F	ENSP00000370257:V750F	V	-	1	0	FREM1	14813256	0.837000	0.29446	0.573000	0.28510	0.026000	0.11368	1.496000	0.35638	1.457000	0.47850	-0.244000	0.11960	GTC	-	NULL		0.458	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	protein_coding	OTTHUMT00000339474.2	C	NM_144966	-		14823256	-1	no_errors	ENST00000380881	ensembl	human	known	74_37	missense	SNP	0.916	A
MSTN	2660	genome.wustl.edu	37	2	190925007	190925007	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:190925007G>T	ENST00000260950.4	-	2	660	c.528C>A	c.(526-528)ctC>ctA	p.L176L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	176					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TAGGTTTGATGAGTCTCAGGA	0.413																																																	0								ENSG00000138379						175.0	165.0	169.0					2																	190925007		2203	4300	6503	MSTN	SO:0001819	synonymous_variant	0			-	HGNC	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.528C>A	2.37:g.190925007G>T		Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L176	ENST00000260950.4	37	c.528	CCDS2303.1	2																																																																																			-	pfam_TGF-b_N		0.413	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	protein_coding	OTTHUMT00000255917.2	G	NM_005259	-		190925007	-1	no_errors	ENST00000260950	ensembl	human	known	74_37	silent	SNP	1.000	T
AC024132.1	0	genome.wustl.edu	37	4	27209550	27209550	+	lincRNA	SNP	G	G	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:27209550G>C	ENST00000382007.1	-	0	2085																											CAGGCTGTCTGCAATAATTGG	0.502																																																	0								ENSG00000205830						120.0	106.0	111.0					4																	27209550		692	1591	2283	AC024132.1			0			-	Clone_based_vega_gene																													4.37:g.27209550G>C		Somatic	0	90	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	40	25.93		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000382007.1	37	NULL		4																																																																																			-	-		0.502	AC024132.1-001	KNOWN	basic	lincRNA	ENSG00000205830	lincRNA	OTTHUMT00000319578.1	G		-		27209550	-1	no_errors	ENST00000382007	ensembl	human	known	74_37	rna	SNP	0.049	C
LAMC1	3915	genome.wustl.edu	37	1	183102597	183102597	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:183102597A>G	ENST00000258341.4	+	22	4018	c.3761A>G	c.(3760-3762)cAt>cGt	p.H1254R		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1254	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						GCCCGAGTACATGAGGAGGCC	0.493																																																	0								ENSG00000135862						137.0	134.0	135.0					1																	183102597		2203	4300	6503	LAMC1	SO:0001583	missense	0			-	HGNC	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.3761A>G	1.37:g.183102597A>G	ENSP00000258341:p.His1254Arg	Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	Q5VYE7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.H1254R	ENST00000258341.4	37	c.3761	CCDS1351.1	1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906511	0.33628	.	.	ENSG00000135862	ENST00000258341	T	0.21031	2.03	5.41	4.29	0.51040	.	0.150649	0.64402	N	0.000012	T	0.18383	0.0441	L	0.57536	1.79	0.40286	D	0.978456	B	0.23442	0.085	B	0.19666	0.026	T	0.06661	-1.0814	10	0.19590	T	0.45	.	7.1696	0.25710	0.7959:0.0:0.0735:0.1306	.	1254	P11047	LAMC1_HUMAN	R	1254	ENSP00000258341:H1254R	ENSP00000258341:H1254R	H	+	2	0	LAMC1	181369220	1.000000	0.71417	0.791000	0.31998	0.770000	0.43624	4.158000	0.58150	0.997000	0.38969	-0.376000	0.06991	CAT	-	NULL		0.493	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC1	protein_coding	OTTHUMT00000085954.2	A	NM_002293	-		183102597	+1	no_errors	ENST00000258341	ensembl	human	known	74_37	missense	SNP	1.000	G
MAP2	4133	genome.wustl.edu	37	2	210517991	210517991	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:210517991G>A	ENST00000360351.4	+	4	603	c.97G>A	c.(97-99)Gat>Aat	p.D33N	MAP2_ENST00000199940.6_Missense_Mutation_p.D33N|MAP2_ENST00000361559.4_Missense_Mutation_p.D33N|MAP2_ENST00000392194.1_Missense_Mutation_p.D33N|MAP2_ENST00000447185.1_Missense_Mutation_p.D33N	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	33					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TGAGATTAAGGATCAAGGCGG	0.542																																					Pancreas(27;423 979 28787 29963)												0								ENSG00000078018						110.0	80.0	90.0					2																	210517991		2203	4300	6503	MAP2	SO:0001583	missense	0			-	HGNC		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.97G>A	2.37:g.210517991G>A	ENSP00000353508:p.Asp33Asn	Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt	p.D33N	ENST00000360351.4	37	c.97	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.212071	0.95069	.	.	ENSG00000078018	ENST00000199940;ENST00000392193;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185	T;T;T;T;T;T;T	0.20332	2.08;2.08;2.08;2.08;2.08;2.08;2.08	5.45	5.45	0.79879	.	0.105638	0.42172	D	0.000754	T	0.26557	0.0649	N	0.14661	0.345	0.36137	D	0.846542	P;B;B;B;P;B	0.52316	0.95;0.241;0.376;0.155;0.952;0.156	P;B;B;B;P;B	0.57846	0.828;0.094;0.146;0.048;0.678;0.037	T	0.18272	-1.0342	10	0.31617	T	0.26	-6.4288	18.2826	0.90103	0.0:0.0:1.0:0.0	.	33;33;34;33;33;33	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	N	33	ENSP00000199940:D33N;ENSP00000376031:D33N;ENSP00000353508:D33N;ENSP00000355290:D33N;ENSP00000409969:D33N;ENSP00000376032:D33N;ENSP00000392164:D33N	ENSP00000199940:D33N	D	+	1	0	MAP2	210226236	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.744000	0.74854	2.561000	0.86390	0.655000	0.94253	GAT	-	NULL		0.542	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	protein_coding	OTTHUMT00000256521.2	G	NM_001039538	-		210517991	+1	no_errors	ENST00000360351	ensembl	human	known	74_37	missense	SNP	1.000	A
TCTN2	79867	genome.wustl.edu	37	12	124163787	124163787	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:124163787C>T	ENST00000303372.5	+	5	643	c.515C>T	c.(514-516)cCt>cTt	p.P172L	TCTN2_ENST00000426174.2_Missense_Mutation_p.P171L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	172	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		GGCCCTTGTCCTTGTAATTTA	0.448																																																	0								ENSG00000168778						243.0	213.0	223.0					12																	124163787		2203	4300	6503	TCTN2	SO:0001583	missense	0			-	HGNC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.515C>T	12.37:g.124163787C>T	ENSP00000304941:p.Pro172Leu	Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1619	p.P172L	ENST00000303372.5	37	c.515	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567727	0.65651	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.82711	-1.64;-1.64	5.05	5.05	0.67936	Domain of unknown function DUF1619 (1);	0.000000	0.64402	D	0.000001	D	0.85089	0.5617	M	0.78916	2.43	0.80722	D	1	B;B	0.22541	0.071;0.071	B;B	0.29663	0.105;0.105	T	0.82959	-0.0198	10	0.44086	T	0.13	-6.0009	18.4634	0.90747	0.0:1.0:0.0:0.0	.	171;172	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	171;172	ENSP00000395171:P171L;ENSP00000304941:P172L	ENSP00000304941:P172L	P	+	2	0	TCTN2	122729740	1.000000	0.71417	0.993000	0.49108	0.987000	0.75469	6.664000	0.74437	2.343000	0.79666	0.416000	0.27883	CCT	-	pfam_DUF1619		0.448	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	protein_coding	OTTHUMT00000400652.1	C	NM_024809	-		124163787	+1	no_errors	ENST00000303372	ensembl	human	known	74_37	missense	SNP	1.000	T
ALDH8A1	64577	genome.wustl.edu	37	6	135239621	135239621	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:135239621C>T	ENST00000265605.2	-	7	1464	c.1396G>A	c.(1396-1398)Ggt>Agt	p.G466S	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.G412S|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.G416S	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	466					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CCCTCTCTACCTATTCCAGAA	0.512																																																	0								ENSG00000118514						114.0	107.0	109.0					6																	135239621		2203	4300	6503	ALDH8A1	SO:0001583	missense	0			-	HGNC	AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.1396G>A	6.37:g.135239621C>T	ENSP00000265605:p.Gly466Ser	Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.G466S	ENST00000265605.2	37	c.1396	CCDS5171.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.727197	0.96847	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	D;T;D	0.87179	-2.22;0.57;-2.22	6.07	6.07	0.98685	Aldehyde dehydrogenase domain (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94976	0.8121	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	416;412;466	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	S	466;412;416	ENSP00000265605:G466S;ENSP00000356819:G412S;ENSP00000356821:G416S	ENSP00000265605:G466S	G	-	1	0	ALDH8A1	135281314	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.710000	0.84655	2.884000	0.98904	0.655000	0.94253	GGT	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.512	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	protein_coding	OTTHUMT00000042334.2	C		-		135239621	-1	no_errors	ENST00000265605	ensembl	human	known	74_37	missense	SNP	1.000	T
PCDHB2	56133	genome.wustl.edu	37	5	140475385	140475385	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140475385C>T	ENST00000194155.4	+	1	1159	c.1011C>T	c.(1009-1011)gtC>gtT	p.V337V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTATTTGTCCAAGTGATGG	0.423																																																	0								ENSG00000112852						93.0	93.0	93.0					5																	140475385		2203	4300	6503	PCDHB2	SO:0001819	synonymous_variant	0			-	HGNC	AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.1011C>T	5.37:g.140475385C>T		Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	25	35.90	Q4KMU1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V337	ENST00000194155.4	37	c.1011	CCDS4244.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.423	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	C	NM_018936	-		140475385	+1	no_errors	ENST00000194155	ensembl	human	known	74_37	silent	SNP	0.159	T
CAMK2A	815	genome.wustl.edu	37	5	149629834	149629834	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:149629834C>T	ENST00000348628.6	-	11	1520	c.855G>A	c.(853-855)gaG>gaA	p.E285E	CAMK2A_ENST00000398376.3_Silent_p.E285E	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	285					calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|kinase activity (GO:0016301)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTCCACGGTCTCCTGTCTGT	0.602																																																	0								ENSG00000070808						98.0	96.0	97.0					5																	149629834		2125	4257	6382	CAMK2A	SO:0001819	synonymous_variant	0			-	HGNC	AB023185	CCDS43386.1, CCDS43387.1	5q32	2013-09-20	2008-10-30		ENSG00000070808	ENSG00000070808	2.7.11.17		1460	protein-coding gene	gene with protein product	"""CaM-kinase II alpha chain"", ""calcium/calmodulin-dependent protein kinase II alpha-B subunit"", ""CaM kinase II alpha subunit"", ""CaMK-II alpha subunit"", ""calcium/calmodulin-dependent protein kinase type II alpha chain"""	114078	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha"""	CAMKA		10231032, 3475713	Standard	NM_015981		Approved	KIAA0968, CaMKIINalpha	uc003lrt.2	Q9UQM7	OTTHUMG00000134281	ENST00000348628.6:c.855G>A	5.37:g.149629834C>T		Somatic	0	92	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	31	40.38	Q9UL21|Q9Y2H4|Q9Y352	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.E285	ENST00000348628.6	37	c.855	CCDS43386.1	5																																																																																			-	superfamily_Kinase-like_dom		0.602	CAMK2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK2A	protein_coding	OTTHUMT00000258869.2	C	NM_015981	-		149629834	-1	no_errors	ENST00000398376	ensembl	human	known	74_37	silent	SNP	1.000	T
KLF15	28999	genome.wustl.edu	37	3	126071535	126071535	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:126071535C>T	ENST00000296233.3	-	2	461	c.231G>A	c.(229-231)ttG>ttA	p.L77L	KLF15_ENST00000509675.1_5'UTR	NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	77					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		ATAGGAAGTCCAAGATGCTGT	0.682																																																	0								ENSG00000163884						12.0	11.0	11.0					3																	126071535		2196	4292	6488	KLF15	SO:0001819	synonymous_variant	0			-	HGNC	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.231G>A	3.37:g.126071535C>T		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	6	53.85		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L77	ENST00000296233.3	37	c.231	CCDS3036.1	3																																																																																			-	NULL		0.682	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF15	protein_coding	OTTHUMT00000370096.1	C	NM_014079	-		126071535	-1	no_errors	ENST00000296233	ensembl	human	known	74_37	silent	SNP	1.000	T
SLC15A5	729025	genome.wustl.edu	37	12	16377422	16377422	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:16377422G>A	ENST00000344941.3	-	6	1276	c.1277C>T	c.(1276-1278)tCc>tTc	p.S426F		NM_001170798.1	NP_001164269.1	A6NIM6	S15A5_HUMAN	solute carrier family 15, member 5	426					peptide transport (GO:0015833)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(2)|lung(1)	3						GGGCATGGAGGAAACAGTGAG	0.448																																																	0								ENSG00000188991						70.0	62.0	65.0					12																	16377422		692	1591	2283	SLC15A5	SO:0001583	missense	0			-	HGNC			12p12.3	2013-07-18			ENSG00000188991	ENSG00000188991		"""Solute carriers"""	33455	protein-coding gene	gene with protein product						21044875	Standard	NM_001170798		Approved		uc021qvs.1	A6NIM6	OTTHUMG00000168793	ENST00000344941.3:c.1277C>T	12.37:g.16377422G>A	ENSP00000340402:p.Ser426Phe	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt	p.S426F	ENST00000344941.3	37	c.1277		12	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064468	0.76187	.	.	ENSG00000188991	ENST00000344941	T	0.04194	3.68	4.94	4.05	0.47172	.	0.000000	0.85682	D	0.000000	T	0.15869	0.0382	M	0.74258	2.255	0.54753	D	0.999984	.	.	.	.	.	.	T	0.00521	-1.1691	8	0.54805	T	0.06	.	13.4716	0.61285	0.0757:0.0:0.9243:0.0	.	.	.	.	F	426	ENSP00000340402:S426F	ENSP00000340402:S426F	S	-	2	0	SLC15A5	16268689	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	5.665000	0.68052	1.305000	0.44909	0.585000	0.79938	TCC	-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt		0.448	SLC15A5-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	SLC15A5	protein_coding	OTTHUMT00000401119.2	G	XM_001129090	-		16377422	-1	no_errors	ENST00000344941	ensembl	human	novel	74_37	missense	SNP	1.000	A
ABCB5	340273	genome.wustl.edu	37	7	20785035	20785035	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:20785035C>T	ENST00000404938.2	+	26	4055	c.3403C>T	c.(3403-3405)Cat>Tat	p.H1135Y	ABCB5_ENST00000258738.6_Missense_Mutation_p.H690Y	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1135	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCAAATATCCATTCTTTTAT	0.433																																																	0								ENSG00000004846						67.0	61.0	63.0					7																	20785035		2203	4300	6503	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3403C>T	7.37:g.20785035C>T	ENSP00000384881:p.His1135Tyr	Somatic	0	79	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.H690Y	ENST00000404938.2	37	c.2068	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	C	23.8	4.454863	0.84209	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.93547	-3.24;-3.24	5.08	5.08	0.68730	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000018	D	0.93661	0.7975	L	0.28740	0.885	0.58432	D	0.999999	D;P	0.60575	0.988;0.931	P;P	0.61722	0.893;0.768	D	0.93702	0.7016	10	0.45353	T	0.12	.	17.5992	0.88021	0.0:1.0:0.0:0.0	.	1135;690	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	Y	1135;690	ENSP00000384881:H1135Y;ENSP00000258738:H690Y	ENSP00000258738:H690Y	H	+	1	0	ABCB5	20751560	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	7.670000	0.83925	2.502000	0.84385	0.655000	0.94253	CAT	-	pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.433	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	C	NM_178559	-		20785035	+1	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	SNP	1.000	T
KIRREL	55243	genome.wustl.edu	37	1	158064706	158064706	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:158064706C>T	ENST00000359209.6	+	15	2137	c.2070C>T	c.(2068-2070)ttC>ttT	p.F690F	KIRREL_ENST00000392272.2_Silent_p.F587F|KIRREL_ENST00000368172.1_Silent_p.F504F|KIRREL_ENST00000368173.3_Silent_p.F706F|KIRREL_ENST00000360089.4_Silent_p.F526F|KIRREL_ENST00000416935.2_Silent_p.F590F			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	690					excretion (GO:0007588)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of actin filament polymerization (GO:0030838)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|dendritic shaft (GO:0043198)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	myosin binding (GO:0017022)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATGAGAAGTTCAACTCCCATC	0.647																																																	0								ENSG00000183853						51.0	54.0	53.0					1																	158064706		2203	4300	6503	KIRREL	SO:0001819	synonymous_variant	0			-	HGNC	AK001707	CCDS1172.2, CCDS72952.1	1q21-q25	2013-01-29			ENSG00000183853	ENSG00000183853		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15734	protein-coding gene	gene with protein product	"""nephrin-like protein 1"""	607428				12424224	Standard	NM_001286349		Approved	NEPH1	uc001frn.4	Q96J84	OTTHUMG00000022438	ENST00000359209.6:c.2070C>T	1.37:g.158064706C>T		Somatic	0	94	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	35	33.96	Q5W0F8|Q5XKC6|Q7Z696|Q7Z7N8|Q8TB15|Q9H9N1|Q9NVA5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.F706	ENST00000359209.6	37	c.2118	CCDS1172.2	1																																																																																			-	NULL		0.647	KIRREL-001	KNOWN	basic|CCDS	protein_coding	KIRREL	protein_coding	OTTHUMT00000058342.3	C	NM_018240	-		158064706	+1	no_errors	ENST00000368173	ensembl	human	known	74_37	silent	SNP	0.999	T
KIF2B	84643	genome.wustl.edu	37	17	51902212	51902212	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:51902212G>A	ENST00000268919.4	+	1	1974	c.1818G>A	c.(1816-1818)ggG>ggA	p.G606G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	606					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTCTGTTAGGGAAGGATACCA	0.423																																																	0								ENSG00000141200						161.0	151.0	154.0					17																	51902212		2203	4300	6503	KIF2B	SO:0001819	synonymous_variant	0			-	HGNC	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1818G>A	17.37:g.51902212G>A		Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	Q96MA2|Q9BXG6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G606	ENST00000268919.4	37	c.1818	CCDS32685.1	17																																																																																			-	NULL		0.423	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	protein_coding	OTTHUMT00000438854.1	G	NM_032559	-		51902212	+1	no_errors	ENST00000268919	ensembl	human	known	74_37	silent	SNP	0.000	A
COL6A6	131873	genome.wustl.edu	37	3	130289705	130289705	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:130289705T>C	ENST00000358511.6	+	6	2476	c.2445T>C	c.(2443-2445)gaT>gaC	p.D815D	COL6A6_ENST00000453409.2_Silent_p.D815D	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	815	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TTGTCATTGATAGCTCTGGCA	0.398																																																	0								ENSG00000206384						92.0	95.0	94.0					3																	130289705		1886	4132	6018	COL6A6	SO:0001819	synonymous_variant	0			-	HGNC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2445T>C	3.37:g.130289705T>C		Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	33	40.00	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.D815	ENST00000358511.6	37	c.2445	CCDS46911.1	3																																																																																			-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.398	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	protein_coding	OTTHUMT00000356705.5	T	NM_001102608	-		130289705	+1	no_errors	ENST00000358511	ensembl	human	known	74_37	silent	SNP	0.455	C
ABCC13	150000	genome.wustl.edu	37	21	15680912	15680912	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:15680912G>A	ENST00000482980.1	+	0	1161							Q9NSE7	ABCCD_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)										TTTCTCCTGGGATAAAACAGG	0.318																																					Ovarian(111;916 1572 1777 20423 38208)												0								ENSG00000243064																																			ABCC13			0			-	HGNC	AF418600		21q11.2	2012-03-14	2010-04-29		ENSG00000243064	ENSG00000243064		"""ATP binding cassette transporters / subfamily C"""	16022	pseudogene	pseudogene		608835	"""ATP-binding cassette, sub-family C (CFTR/MRP), member 13"""			10049586	Standard	NR_003087		Approved	PRED6, C21orf73	uc002yjr.3	Q9NSE7	OTTHUMG00000074257		21.37:g.15680912G>A		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	Q8N6A4|Q8N6A5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000482980.1	37	NULL		21																																																																																			-	-		0.318	ABCC13-004	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ABCC13	pseudogene	OTTHUMT00000157809.3	G		-		15680912	+1	no_errors	ENST00000482980	ensembl	human	known	74_37	rna	SNP	1.000	A
DAZAP2	9802	genome.wustl.edu	37	12	51632616	51632616	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:51632616G>A	ENST00000412716.3	+	0	541				DAZAP2_ENST00000425012.2_5'UTR|DAZAP2_ENST00000551313.1_5'Flank|DAZAP2_ENST00000449723.3_5'UTR|DAZAP2_ENST00000549732.2_5'Flank|DAZAP2_ENST00000439799.2_5'UTR|DAZAP2_ENST00000604900.1_5'Flank|DAZAP2_ENST00000549555.1_5'UTR			Q15038	DAZP2_HUMAN	DAZ associated protein 2							cytoplasm (GO:0005737)|nucleus (GO:0005634)	WW domain binding (GO:0050699)			haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)	6						ATGTGACACGGAAGTAGCTCC	0.647																																																	0								ENSG00000183283						54.0	66.0	62.0					12																	51632616		692	1591	2283	DAZAP2	SO:0001623	5_prime_UTR_variant	0			-	HGNC	D31767	CCDS8809.1, CCDS44884.1, CCDS44885.1, CCDS44886.1, CCDS44887.1, CCDS44888.1	12q13.13	2012-04-04			ENSG00000183283	ENSG00000183283			2684	protein-coding gene	gene with protein product		607431				10857750, 7584044	Standard	NM_014764		Approved	KIAA0058	uc010snd.2	Q15038	OTTHUMG00000169649	ENST00000412716.3:c.-76G>A	12.37:g.51632616G>A		Somatic	0	95	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	A8K254|B4DDT5|B4E1G3|C9JA96|C9JP84|E9PB45|F8VU62	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000412716.3	37	NULL	CCDS8809.1	12																																																																																			-	-		0.647	DAZAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZAP2	protein_coding	OTTHUMT00000405259.2	G	NM_014764	-		51632616	+1	no_errors	ENST00000551919	ensembl	human	known	74_37	rna	SNP	1.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228883790	228883790	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:228883790C>T	ENST00000392056.3	-	7	1826	c.1780G>A	c.(1780-1782)Gag>Aag	p.E594K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E594K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	594						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCAGAAGCCTCAGCTGCAGGC	0.567																																																	0								ENSG00000153820						41.0	39.0	40.0					2																	228883790		2203	4300	6503	SPHKAP	SO:0001583	missense	0			-	HGNC		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.1780G>A	2.37:g.228883790C>T	ENSP00000375909:p.Glu594Lys	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AKAP_110_C	p.E594K	ENST00000392056.3	37	c.1780	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	4.670	0.124541	0.08931	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.47869	0.83;0.83	5.6	1.6	0.23607	.	2.640600	0.01185	N	0.007192	T	0.45296	0.1335	L	0.54323	1.7	0.09310	N	1	B;B	0.20459	0.001;0.045	B;B	0.23574	0.001;0.047	T	0.28650	-1.0037	10	0.59425	D	0.04	.	3.6962	0.08365	0.1143:0.4714:0.2666:0.1477	.	594;594	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	K	594	ENSP00000375909:E594K;ENSP00000339886:E594K	ENSP00000339886:E594K	E	-	1	0	SPHKAP	228592034	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	0.119000	0.15626	0.322000	0.23283	0.655000	0.94253	GAG	-	NULL		0.567	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	protein_coding	OTTHUMT00000331750.1	C	NM_030623	-		228883790	-1	no_errors	ENST00000392056	ensembl	human	known	74_37	missense	SNP	0.001	T
SFTPD	6441	genome.wustl.edu	37	10	81706257	81706257	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:81706257C>T	ENST00000372292.3	-	2	199	c.159G>A	c.(157-159)cgG>cgA	p.R53R		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	53	Collagen-like.				defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|lung alveolus development (GO:0048286)|macrophage chemotaxis (GO:0048246)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of phagocytosis (GO:0050766)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|regulation of cytokine production (GO:0001817)|respiratory gaseous exchange (GO:0007585)|surfactant homeostasis (GO:0043129)	collagen trimer (GO:0005581)|endocytic vesicle (GO:0030139)|extracellular region (GO:0005576)|lysosome (GO:0005764)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CTCTCCCATCCCGTCCATCGC	0.597																																																	0								ENSG00000133661						70.0	63.0	65.0					10																	81706257		2203	4300	6503	SFTPD	SO:0001819	synonymous_variant	0			-	HGNC	L05485	CCDS7362.1	10q22.2-q23.1	2012-11-02	2008-08-26		ENSG00000133661	ENSG00000133661		"""Collectins"""	10803	protein-coding gene	gene with protein product		178635	"""surfactant, pulmonary-associated protein D"""	SFTP4		1898081, 1339284	Standard	NM_003019		Approved	SP-D, COLEC7	uc001kbh.3	P35247	OTTHUMG00000018590	ENST00000372292.3:c.159G>A	10.37:g.81706257C>T		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	30	30.23	Q5T0M3|Q6FH08|Q86YK9|Q8TCD8|Q9UCJ2|Q9UCJ3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R53	ENST00000372292.3	37	c.159	CCDS7362.1	10																																																																																			-	pfam_Collagen		0.597	SFTPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFTPD	protein_coding	OTTHUMT00000049011.1	C		-		81706257	-1	no_errors	ENST00000372292	ensembl	human	known	74_37	silent	SNP	1.000	T
SLC35G5	83650	genome.wustl.edu	37	8	11189398	11189398	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:11189398C>T	ENST00000382435.4	+	1	1002	c.783C>T	c.(781-783)atC>atT	p.I261I		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	261						integral component of membrane (GO:0016021)											CAGAGGGGATCCTCGCCTTGG	0.632																																																	0								ENSG00000177710						120.0	115.0	117.0					8																	11189398		2203	4300	6503	SLC35G5	SO:0001819	synonymous_variant	0			-	HGNC	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.783C>T	8.37:g.11189398C>T		Somatic	0	195	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	44	53	45.36	A2RRL6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DMT	p.I261	ENST00000382435.4	37	c.783	CCDS5980.1	8																																																																																			-	pfam_DMT		0.632	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	protein_coding	OTTHUMT00000207313.2	C	NM_054028	-		11189398	+1	no_errors	ENST00000382435	ensembl	human	known	74_37	silent	SNP	0.851	T
SLC9A4	389015	genome.wustl.edu	37	2	103148903	103148903	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:103148903G>A	ENST00000295269.4	+	12	2610	c.2153G>A	c.(2152-2154)aGa>aAa	p.R718K		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	718					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGCCTACACAGAGGAAGGAAG	0.478																																																	0								ENSG00000180251						90.0	81.0	84.0					2																	103148903		2203	4300	6503	SLC9A4	SO:0001583	missense	0			-	HGNC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.2153G>A	2.37:g.103148903G>A	ENSP00000295269:p.Arg718Lys	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	Q69YK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.R718K	ENST00000295269.4	37	c.2153	CCDS33264.1	2	.	.	.	.	.	.	.	.	.	.	G	9.916	1.210927	0.22289	.	.	ENSG00000180251	ENST00000295269	T	0.48522	0.81	4.9	2.62	0.31277	.	1.016370	0.07837	N	0.962295	T	0.30293	0.0760	L	0.32530	0.975	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31138	-0.9954	10	0.02654	T	1	.	5.1629	0.15070	0.2222:0.165:0.6128:0.0	.	718	Q6AI14	SL9A4_HUMAN	K	718	ENSP00000295269:R718K	ENSP00000295269:R718K	R	+	2	0	SLC9A4	102515335	0.905000	0.30787	0.015000	0.15790	0.019000	0.09904	1.069000	0.30641	0.503000	0.28060	0.655000	0.94253	AGA	-	NULL		0.478	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	protein_coding	OTTHUMT00000329498.1	G	NM_001011552.3	-		103148903	+1	no_errors	ENST00000295269	ensembl	human	known	74_37	missense	SNP	0.042	A
CLPTM1	1209	genome.wustl.edu	37	19	45491350	45491350	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:45491350G>A	ENST00000337392.5	+	9	1201	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	CLPTM1_ENST00000541297.2_Missense_Mutation_p.E337K|CLPTM1_ENST00000546079.1_Missense_Mutation_p.E249K	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	351					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GGCCCTGCTGGAGACCAACCC	0.612																																																	0								ENSG00000104853						259.0	203.0	222.0					19																	45491350		2203	4300	6503	CLPTM1	SO:0001583	missense	0			-	HGNC	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1051G>A	19.37:g.45491350G>A	ENSP00000336994:p.Glu351Lys	Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CLPTM1	p.E351K	ENST00000337392.5	37	c.1051	CCDS12651.1	19	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987503	0.93106	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.91510	3.215	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.988;0.993	D	0.88172	0.2865	9	0.72032	D	0.01	-29.2594	14.5846	0.68315	0.0:0.0:1.0:0.0	.	337;351	F5H8J3;O96005	.;CLPT1_HUMAN	K	249;337;351;351	.	ENSP00000336994:E351K	E	+	1	0	CLPTM1	50183190	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.846000	0.92159	2.271000	0.75665	0.650000	0.86243	GAG	-	pfam_CLPTM1		0.612	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLPTM1	protein_coding	OTTHUMT00000453267.1	G	NM_001294	-		45491350	+1	no_errors	ENST00000337392	ensembl	human	known	74_37	missense	SNP	1.000	A
SNAI1	6615	genome.wustl.edu	37	20	48600635	48600635	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:48600635T>C	ENST00000244050.2	+	2	418	c.357T>C	c.(355-357)tcT>tcC	p.S119S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	119	Ser-rich.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTTCAGTCTCTTCCTTGGAGG	0.627																																																	0								ENSG00000124216						53.0	62.0	59.0					20																	48600635		2203	4300	6503	SNAI1	SO:0001819	synonymous_variant	0			-	HGNC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.357T>C	20.37:g.48600635T>C		Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	22	43.59	B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S119	ENST00000244050.2	37	c.357	CCDS13423.1	20																																																																																			-	NULL		0.627	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	protein_coding	OTTHUMT00000080350.1	T		-		48600635	+1	no_errors	ENST00000244050	ensembl	human	known	74_37	silent	SNP	0.877	C
DYNC1LI1	51143	genome.wustl.edu	37	3	32574576	32574576	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:32574576C>T	ENST00000273130.4	-	8	1085	c.982G>A	c.(982-984)Gat>Aat	p.D328N	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.D212N	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	328					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						TTATCATTATCCCACCCTGCT	0.303																																																	0								ENSG00000144635						65.0	71.0	69.0					3																	32574576		2203	4284	6487	DYNC1LI1	SO:0001583	missense	0			-	HGNC	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.982G>A	3.37:g.32574576C>T	ENSP00000273130:p.Asp328Asn	Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	12	63.64	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase	p.D328N	ENST00000273130.4	37	c.982	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.333223	0.95758	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.37915	1.17;1.17	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.70833	0.3269	M	0.90977	3.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.76192	-0.3049	10	0.87932	D	0	-20.8016	20.4192	0.99033	0.0:1.0:0.0:0.0	.	212;328	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	N	328;212	ENSP00000273130:D328N;ENSP00000407279:D212N	ENSP00000273130:D328N	D	-	1	0	DYNC1LI1	32549580	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	GAT	-	pfam_Dynein_light_int_chain		0.303	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	protein_coding	OTTHUMT00000253250.1	C	NM_016141	-		32574576	-1	no_errors	ENST00000273130	ensembl	human	known	74_37	missense	SNP	1.000	T
UGT2B11	10720	genome.wustl.edu	37	4	70079817	70079817	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:70079817C>T	ENST00000446444.1	-	1	632	c.624G>A	c.(622-624)atG>atA	p.M208I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	208					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TTACCCTCTCCATGAAAGTCA	0.363																																																	0								ENSG00000213759						59.0	58.0	58.0					4																	70079817		2202	4295	6497	UGT2B11	SO:0001583	missense	0			-	HGNC	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.624G>A	4.37:g.70079817C>T	ENSP00000387683:p.Met208Ile	Somatic	0	185	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	68	20.69	Q3KNV9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.M208I	ENST00000446444.1	37	c.624	CCDS3527.1	4	.	.	.	.	.	.	.	.	.	.	-	1.772	-0.484182	0.04383	.	.	ENSG00000213759	ENST00000446444	T	0.60920	0.15	1.96	1.01	0.19927	.	1.026220	0.07796	U	0.955734	T	0.40372	0.1114	L	0.28776	0.89	0.18873	N	0.999981	B	0.10296	0.003	B	0.12837	0.008	T	0.24440	-1.0160	10	0.18710	T	0.47	.	4.6776	0.12719	0.0:0.6386:0.0:0.3614	.	208	O75310	UDB11_HUMAN	I	208	ENSP00000387683:M208I	ENSP00000387683:M208I	M	-	3	0	UGT2B11	70114406	0.000000	0.05858	0.641000	0.29422	0.532000	0.34746	-0.511000	0.06321	0.115000	0.18071	0.184000	0.17185	ATG	-	pfam_UDP_glucos_trans		0.363	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B11	protein_coding	OTTHUMT00000251551.2	C	NM_001073	-		70079817	-1	no_errors	ENST00000446444	ensembl	human	known	74_37	missense	SNP	0.762	T
SKAP1	8631	genome.wustl.edu	37	17	46474066	46474066	+	Missense_Mutation	SNP	C	C	T	rs112999194	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:46474066C>T	ENST00000336915.6	-	2	197	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	SKAP1_ENST00000584924.1_Missense_Mutation_p.R43Q	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	43					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CTGAAAGCCCCGTAGAATATG	0.378																																																	0								ENSG00000141293	C	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	150.0	157.0	154.0		128,128	3.5	0.9	17	dbSNP_132	154	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	SKAP1	NM_001075099.1,NM_003726.3	43,43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	probably-damaging,probably-damaging	43/359,43/360	46474066	3,13003	2203	4300	6503	SKAP1	SO:0001583	missense	0			-	HGNC	Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.128G>A	17.37:g.46474066C>T	ENSP00000338171:p.Arg43Gln	Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	18	28.00	D3DTV1|O15268	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.R43Q	ENST00000336915.6	37	c.128	CCDS32674.1	17	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997820	0.54147	2.27E-4	2.33E-4	ENSG00000141293	ENST00000336915	T	0.32753	1.44	5.55	3.45	0.39498	.	0.455607	0.22131	N	0.064187	T	0.30386	0.0763	L	0.60455	1.87	0.19300	N	0.99998	P;D	0.63046	0.873;0.992	B;P	0.47299	0.208;0.543	T	0.29088	-1.0023	10	0.66056	D	0.02	-26.1358	3.73	0.08489	0.2386:0.5388:0.1384:0.0842	.	43;43	Q86WV1-2;Q86WV1	.;SKAP1_HUMAN	Q	43	ENSP00000338171:R43Q	ENSP00000338171:R43Q	R	-	2	0	SKAP1	43829065	0.017000	0.18338	0.907000	0.35723	0.978000	0.69477	0.667000	0.25112	1.354000	0.45846	0.305000	0.20034	CGG	-	NULL		0.378	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	protein_coding	OTTHUMT00000443432.1	C	NM_003726	rs112999194		46474066	-1	no_errors	ENST00000336915	ensembl	human	known	74_37	missense	SNP	0.332	T
TGM2	7052	genome.wustl.edu	37	20	36770476	36770476	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:36770476C>T	ENST00000361475.2	-	7	1158	c.985G>A	c.(985-987)Gag>Aag	p.E329K	TGM2_ENST00000536724.1_Missense_Mutation_p.E269K|TGM2_ENST00000536701.1_Missense_Mutation_p.E248K	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	329					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CAGATCATCTCGCTCTTGTCA	0.582																																																	0								ENSG00000198959						204.0	163.0	177.0					20																	36770476		2203	4300	6503	TGM2	SO:0001583	missense	0			-	HGNC	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.985G>A	20.37:g.36770476C>T	ENSP00000355330:p.Glu329Lys	Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	18	47.06	E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E329K	ENST00000361475.2	37	c.985	CCDS13302.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.514326	0.96402	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	D;D;D	0.95588	-3.75;-3.75;-3.75	5.02	5.02	0.67125	Transglutaminase-like (2);	0.308059	0.39407	N	0.001374	D	0.95211	0.8447	L	0.34521	1.04	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.993;0.979;0.996;0.994;0.979	P;P;P;P;P	0.56700	0.704;0.758;0.781;0.804;0.758	D	0.96048	0.9029	10	0.87932	D	0	0.9521	17.3304	0.87261	0.0:1.0:0.0:0.0	.	269;248;329;269;329	F5H6P0;B4DIT7;P21980-2;B4DTN7;P21980	.;.;.;.;TGM2_HUMAN	K	329;248;269	ENSP00000355330:E329K;ENSP00000444701:E248K;ENSP00000437479:E269K	ENSP00000355330:E329K	E	-	1	0	TGM2	36203890	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	5.264000	0.65513	2.329000	0.79093	0.462000	0.41574	GAG	-	pfam_Transglutaminase-like,smart_Transglutaminase-like		0.582	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	protein_coding	OTTHUMT00000079151.2	C	NM_198951	-		36770476	-1	no_errors	ENST00000361475	ensembl	human	known	74_37	missense	SNP	0.999	T
DENND4B	9909	genome.wustl.edu	37	1	153914694	153914694	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153914694G>A	ENST00000361217.4	-	5	1197	c.779C>T	c.(778-780)aCc>aTc	p.T260I		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	260	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GAGCACAAAGGTGGAGAAGAC	0.642																																																	0								ENSG00000198837						73.0	84.0	80.0					1																	153914694		2087	4203	6290	DENND4B	SO:0001583	missense	0			-	HGNC	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.779C>T	1.37:g.153914694G>A	ENSP00000354597:p.Thr260Ile	Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	22	37.14	Q5T4K0	Missense_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	p.T260I	ENST00000361217.4	37	c.779	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452548	0.84209	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.46063	0.88;0.88	4.63	4.63	0.57726	uDENN (3);	.	.	.	.	T	0.57330	0.2046	M	0.73372	2.23	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.61456	-0.7059	9	0.62326	D	0.03	-10.1873	16.4188	0.83752	0.0:0.0:1.0:0.0	.	260	O75064	DEN4B_HUMAN	I	260;271	ENSP00000354597:T260I;ENSP00000357635:T271I	ENSP00000354597:T260I	T	-	2	0	DENND4B	152181318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.407000	0.97325	2.420000	0.82092	0.563000	0.77884	ACC	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	protein_coding	OTTHUMT00000090278.2	G	XM_375806	-		153914694	-1	no_errors	ENST00000361217	ensembl	human	known	74_37	missense	SNP	1.000	A
KDM5C	8242	genome.wustl.edu	37	X	53226161	53226178	+	In_Frame_Del	DEL	GGAGGGCAGTGAGGCCAG	GGAGGGCAGTGAGGCCAG	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	GGAGGGCAGTGAGGCCAG	GGAGGGCAGTGAGGCCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:53226161_53226178delGGAGGGCAGTGAGGCCAG	ENST00000375401.3	-	19	3203_3220	c.2671_2688delCTGGCCTCACTGCCCTCC	c.(2671-2688)ctggcctcactgccctccdel	p.LASLPS891del	KDM5C_ENST00000452825.3_In_Frame_Del_p.LASLPS824del|KDM5C_ENST00000375383.3_In_Frame_Del_p.LASLPS850del|KDM5C_ENST00000404049.3_In_Frame_Del_p.LASLPS890del|KDM5C_ENST00000375379.3_In_Frame_Del_p.LASLPS891del	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	891					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GCCCTGGACTGGAGGGCAGTGAGGCCAGGGCCTCACGA	0.656			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012																																			KDM5C	SO:0001651	inframe_deletion	0				HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2671_2688delCTGGCCTCACTGCCCTCC	X.37:g.53226161_53226178delGGAGGGCAGTGAGGCCAG	ENSP00000364550:p.Leu891_Ser896del	Somatic	NA	NA	NA		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.LASLPS891in_frame_del	ENST00000375401.3	37	c.2688_2671	CCDS14351.1	X																																																																																			-	pfam_Lys_sp_deMease_like_dom		0.656	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	GGAGGGCAGTGAGGCCAG	NM_004187			53226178	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	in_frame_del	DEL	0.525:0.535:0.430:0.122:0.957:0.968:0.929:0.855:0.845:0.849:0.999:1.000:1.000:1.000:1.000:0.973:0.997:0.997	-
RAC1	5879	genome.wustl.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.P29S	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	CAATGCATTTCCTGGAGAATA	0.353																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						ENSG00000136238						112.0	111.0	111.0					7																	6426892		2203	4297	6500	RAC1	SO:0001583	missense	0			-	HGNC	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.85C>T	7.37:g.6426892C>T	ENSP00000258737:p.Pro29Ser	Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	44	30.16	O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P29S	ENST00000348035.4	37	c.85	CCDS5348.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.345194	0.95807	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.76186	-1.0;-1.0	6.05	6.05	0.98169	Small GTP-binding protein domain (1);	0.049770	0.85682	D	0.000000	D	0.83069	0.5174	L	0.56340	1.77	0.80722	D	1	P;P	0.50528	0.811;0.936	P;P	0.58820	0.763;0.846	T	0.83092	-0.0132	10	0.87932	D	0	.	20.2117	0.98287	0.0:1.0:0.0:0.0	.	29;29	P63000;A4D2P0	RAC1_HUMAN;.	S	29	ENSP00000258737:P29S;ENSP00000348461:P29S	ENSP00000258737:P29S	P	+	1	0	RAC1	6393417	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.622000	0.83099	2.878000	0.98634	0.650000	0.86243	CCT	-	pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.353	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAC1	protein_coding	OTTHUMT00000242868.2	C	NM_018890	-		6426892	+1	no_errors	ENST00000356142	ensembl	human	known	74_37	missense	SNP	1.000	T
TACR1	6869	genome.wustl.edu	37	2	75425870	75425870	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:75425870C>T	ENST00000305249.5	-	1	956	c.191G>A	c.(190-192)aGg>aAg	p.R64K	TACR1_ENST00000409848.3_Missense_Mutation_p.R64K	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	64					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CGTCACTGTCCTCATTCTTTT	0.507																																					Pancreas(64;62 1268 3653 14826 43765)												0								ENSG00000115353						168.0	140.0	150.0					2																	75425870		2203	4300	6503	TACR1	SO:0001583	missense	0			-	HGNC	M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.191G>A	2.37:g.75425870C>T	ENSP00000303522:p.Arg64Lys	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	A8K150	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt	p.R64K	ENST00000305249.5	37	c.191	CCDS1958.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.373414	0.95923	.	.	ENSG00000115353	ENST00000305249;ENST00000409848	T;T	0.40225	1.04;1.04	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.64994	0.2649	M	0.73753	2.245	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	T	0.64879	-0.6303	10	0.52906	T	0.07	.	16.9498	0.86242	0.0:1.0:0.0:0.0	.	64	P25103	NK1R_HUMAN	K	64	ENSP00000303522:R64K;ENSP00000386448:R64K	ENSP00000303522:R64K	R	-	2	0	TACR1	75279378	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.604000	0.82830	2.854000	0.98071	0.655000	0.94253	AGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt		0.507	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR1	protein_coding	OTTHUMT00000252239.3	C	NM_001058	-		75425870	-1	no_errors	ENST00000305249	ensembl	human	known	74_37	missense	SNP	1.000	T
EPX	8288	genome.wustl.edu	37	17	56281639	56281639	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:56281639G>A	ENST00000225371.5	+	12	2113	c.2003G>A	c.(2002-2004)aGa>aAa	p.R668K		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	668					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GCCCTGAGCAGAATTTCCTTG	0.507																																																	0								ENSG00000121053						114.0	101.0	105.0					17																	56281639		2203	4300	6503	EPX	SO:0001583	missense	0			-	HGNC	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.2003G>A	17.37:g.56281639G>A	ENSP00000225371:p.Arg668Lys	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00	Q4TVP3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R668K	ENST00000225371.5	37	c.2003	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	G	0.030	-1.342285	0.01277	.	.	ENSG00000121053	ENST00000225371	T	0.71461	-0.57	5.65	-8.79	0.00820	.	1.724340	0.03222	N	0.177791	T	0.43211	0.1237	N	0.01779	-0.725	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.59322	-0.7476	10	0.02654	T	1	0.2851	21.9545	0.99964	0.1473:0.0:0.8527:0.0	.	668	P11678	PERE_HUMAN	K	668	ENSP00000225371:R668K	ENSP00000225371:R668K	R	+	2	0	EPX	53636638	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.763000	0.04740	-1.754000	0.01321	-0.768000	0.03414	AGA	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr		0.507	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	protein_coding	OTTHUMT00000443367.1	G	NM_000502	-		56281639	+1	no_errors	ENST00000225371	ensembl	human	known	74_37	missense	SNP	0.000	A
SETX	23064	genome.wustl.edu	37	9	135173522	135173522	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:135173522G>A	ENST00000224140.5	-	13	5908	c.5726C>T	c.(5725-5727)cCa>cTa	p.P1909L	SETX_ENST00000393220.1_Missense_Mutation_p.P1909L|SETX_ENST00000372169.2_Missense_Mutation_p.P1909L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1909					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CATAGGGTTTGGATTCAGAAC	0.373																																																	0								ENSG00000107290						130.0	124.0	126.0					9																	135173522		2203	4300	6503	SETX	SO:0001583	missense	0			-	HGNC	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5726C>T	9.37:g.135173522G>A	ENSP00000224140:p.Pro1909Leu	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	24	17.24	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase	p.P1909L	ENST00000224140.5	37	c.5726	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583139	0.86748	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.91894	-2.5;-2.93;-2.57;-2.19	5.73	5.73	0.89815	.	0.162190	0.42964	D	0.000625	D	0.93946	0.8062	L	0.36672	1.1	0.80722	D	1	P;D;D	0.89917	0.528;1.0;1.0	P;D;D	0.91635	0.502;0.997;0.999	D	0.94463	0.7678	10	0.87932	D	0	.	16.6142	0.84902	0.0:0.0:1.0:0.0	.	1909;1909;1909	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	L	1909;151;1909;1909	ENSP00000224140:P1909L;ENSP00000409143:P151L;ENSP00000361242:P1909L;ENSP00000376913:P1909L	ENSP00000224140:P1909L	P	-	2	0	SETX	134163343	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.398000	0.66308	2.681000	0.91329	0.591000	0.81541	CCA	-	superfamily_P-loop_NTPase		0.373	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	protein_coding	OTTHUMT00000054774.3	G	NM_015046	-		135173522	-1	no_errors	ENST00000372169	ensembl	human	known	74_37	missense	SNP	1.000	A
KIF21B	23046	genome.wustl.edu	37	1	200943942	200943942	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:200943942A>C	ENST00000422435.2	-	34	5030	c.4714T>G	c.(4714-4716)Tgg>Ggg	p.W1572G	KIF21B_ENST00000461742.2_Missense_Mutation_p.W1572G|KIF21B_ENST00000360529.5_Missense_Mutation_p.W1559G|KIF21B_ENST00000332129.2_Missense_Mutation_p.W1559G	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1572					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TCCACGTTCCAGACCTTGATG	0.602																																																	0								ENSG00000116852						250.0	211.0	224.0					1																	200943942		2203	4300	6503	KIF21B	SO:0001583	missense	0			-	HGNC	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4714T>G	1.37:g.200943942A>C	ENSP00000411831:p.Trp1572Gly	Somatic	0	79	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	37	31.48	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.W1572G	ENST00000422435.2	37	c.4714	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.940804	0.73557	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73	4.57	3.41	0.39046	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94009	0.8081	H	0.98629	4.285	0.58432	D	0.999996	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.87578	0.996;0.998;0.996;0.994	D	0.94000	0.7274	10	0.87932	D	0	.	11.1495	0.48451	0.8451:0.1549:0.0:0.0	.	1559;1572;1572;1559	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	G	1559;1559;1572;1572;1572	ENSP00000328494:W1559G;ENSP00000353724:W1559G;ENSP00000433808:W1572G;ENSP00000411831:W1572G	ENSP00000328494:W1559G	W	-	1	0	KIF21B	199210565	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.341000	0.79300	0.580000	0.29522	0.459000	0.35465	TGG	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.602	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	protein_coding	OTTHUMT00000382635.1	A	XM_371332	-		200943942	-1	no_errors	ENST00000422435	ensembl	human	known	74_37	missense	SNP	1.000	C
ADAMTS14	140766	genome.wustl.edu	37	10	72494975	72494975	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:72494975C>T	ENST00000373207.1	+	9	1403	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.P471L	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	468	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGGCCCCAGCCCCCAGAGCTG	0.587																																																	0								ENSG00000138316						70.0	69.0	69.0					10																	72494975		2203	4300	6503	ADAMTS14	SO:0001583	missense	0			-	HGNC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1403C>T	10.37:g.72494975C>T	ENSP00000362303:p.Pro468Leu	Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	28	17.65	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.P471L	ENST00000373207.1	37	c.1412	CCDS7306.1	10	.	.	.	.	.	.	.	.	.	.	C	6.337	0.430290	0.12045	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.56776	0.44;0.44	4.51	3.6	0.41247	Metallopeptidase, catalytic domain (1);	0.077029	0.50627	D	0.000109	T	0.27933	0.0688	N	0.12502	0.225	0.54753	D	0.999983	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.001	T	0.12708	-1.0537	10	0.25751	T	0.34	.	5.1521	0.15015	0.0:0.7385:0.0:0.2615	.	468;471	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	L	471;468	ENSP00000362304:P471L;ENSP00000362303:P468L	ENSP00000362303:P468L	P	+	2	0	ADAMTS14	72164981	0.655000	0.27376	0.999000	0.59377	0.962000	0.63368	4.787000	0.62432	2.516000	0.84829	0.655000	0.94253	CCC	-	smart_ADAM_Cys-rich		0.587	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	protein_coding	OTTHUMT00000048522.1	C	NM_080722	-		72494975	+1	no_errors	ENST00000373208	ensembl	human	known	74_37	missense	SNP	1.000	T
ASTN2	23245	genome.wustl.edu	37	9	119739019	119739019	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:119739019C>T	ENST00000313400.4	-	8	1737	c.1637G>A	c.(1636-1638)aGa>aAa	p.R546K	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.R495K|ASTN2_ENST00000373996.3_Missense_Mutation_p.R546K			O75129	ASTN2_HUMAN	astrotactin 2	546	EGF-like 1.				negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACACAGGTGTCTGTGAACAGG	0.502																																																	0								ENSG00000148219						112.0	90.0	97.0					9																	119739019		2203	4300	6503	ASTN2	SO:0001583	missense	0			-	HGNC	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1637G>A	9.37:g.119739019C>T	ENSP00000314038:p.Arg546Lys	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	40	28.57	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.R546K	ENST00000313400.4	37	c.1637		9	.	.	.	.	.	.	.	.	.	.	C	5.339	0.247868	0.10130	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.09255	3.19;3.19;3.0;3.19	5.81	1.99	0.26369	.	0.230686	0.42548	N	0.000696	T	0.04543	0.0124	N	0.03608	-0.345	0.33964	D	0.645969	B;B;B	0.19583	0.017;0.0;0.037	B;B;B	0.25140	0.005;0.0;0.058	T	0.39035	-0.9633	9	.	.	.	-4.4131	10.3642	0.44012	0.0:0.7449:0.0:0.2551	.	495;546;546	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	K	546;546;273;495	ENSP00000314038:R546K;ENSP00000363108:R546K;ENSP00000363098:R273K;ENSP00000354504:R495K	.	R	-	2	0	ASTN2	118778840	1.000000	0.71417	0.991000	0.47740	0.776000	0.43924	2.267000	0.43329	0.109000	0.17891	-0.781000	0.03364	AGA	-	NULL		0.502	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	protein_coding		C	NM_014010	-		119739019	-1	no_errors	ENST00000313400	ensembl	human	known	74_37	missense	SNP	1.000	T
SDCBP2	27111	genome.wustl.edu	37	20	1291541	1291541	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:1291541G>A	ENST00000360779.3	-	8	906				SDCBP2_ENST00000339987.3_Intron|SDCBP2_ENST00000381808.3_Intron|SDCBP2_ENST00000381812.1_Intron|SDCBP2_ENST00000467129.1_5'UTR	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2						intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						TTGTCCTAGGGAGGAGGCAAG	0.547																																																	0								ENSG00000125775						116.0	98.0	104.0					20																	1291541		2203	4300	6503	SDCBP2	SO:0001627	intron_variant	0			-	HGNC	AF131809	CCDS13013.1, CCDS42848.1	20p13	2008-07-02			ENSG00000125775	ENSG00000125775			15756	protein-coding gene	gene with protein product						11152476	Standard	NM_080489		Approved	ST-2, SITAC18	uc021vzn.1	Q9H190	OTTHUMG00000031661	ENST00000360779.3:c.733-6C>T	20.37:g.1291541G>A		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	O95892|Q5W0X1|Q9BZ42|Q9H567|Q9NRY8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000360779.3	37	NULL	CCDS42848.1	20																																																																																			-	-		0.547	SDCBP2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SDCBP2	protein_coding	OTTHUMT00000077513.2	G	NM_080489	-		1291541	-1	no_errors	ENST00000467129	ensembl	human	putative	74_37	rna	SNP	0.000	A
PKP2	5318	genome.wustl.edu	37	12	32974432	32974432	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:32974432T>C	ENST00000070846.6	-	10	2027	c.2003A>G	c.(2002-2004)aAg>aGg	p.K668R	PKP2_ENST00000340811.4_Missense_Mutation_p.K624R	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	668					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GGGGTTGCTCTTTTCCTCCGG	0.478																																																	0								ENSG00000057294						86.0	74.0	78.0					12																	32974432		2203	4300	6503	PKP2	SO:0001583	missense	0			-	HGNC	X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2003A>G	12.37:g.32974432T>C	ENSP00000070846:p.Lys668Arg	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	26.47	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.K668R	ENST00000070846.6	37	c.2003	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	T	14.40	2.522719	0.44866	.	.	ENSG00000057294	ENST00000340811;ENST00000070846;ENST00000537278	T;T	0.75154	-0.91;-0.91	4.99	3.85	0.44370	Armadillo-like helical (1);Armadillo-type fold (1);	0.106321	0.64402	N	0.000005	T	0.60064	0.2240	L	0.28115	0.83	0.36967	D	0.893636	B;B;B	0.25390	0.102;0.061;0.125	B;B;B	0.28139	0.086;0.039;0.055	T	0.57717	-0.7763	10	0.33940	T	0.23	-4.6989	8.5577	0.33492	0.0:0.0897:0.0:0.9103	.	624;624;668	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	R	624;668;668	ENSP00000342800:K624R;ENSP00000070846:K668R	ENSP00000070846:K668R	K	-	2	0	PKP2	32865699	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	4.028000	0.57246	0.762000	0.33152	0.460000	0.39030	AAG	-	superfamily_ARM-type_fold		0.478	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	protein_coding	OTTHUMT00000404449.1	T	NM_004572	-		32974432	-1	no_errors	ENST00000070846	ensembl	human	known	74_37	missense	SNP	1.000	C
PTPDC1	138639	genome.wustl.edu	37	9	96860235	96860235	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:96860235G>T	ENST00000375360.3	+	7	1565	c.1225G>T	c.(1225-1227)Gag>Tag	p.E409*	PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.E461*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	409					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGAGCAAGGGGAGACTCCACA	0.542																																																	0								ENSG00000158079						55.0	54.0	54.0					9																	96860235		2203	4300	6503	PTPDC1	SO:0001587	stop_gained	0			-	HGNC	BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.1225G>T	9.37:g.96860235G>T	ENSP00000364509:p.Glu409*	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase	p.E409*	ENST00000375360.3	37	c.1225	CCDS6707.1	9	.	.	.	.	.	.	.	.	.	.	.	21.5	4.164773	0.78339	.	.	ENSG00000158079	ENST00000375360;ENST00000288976	.	.	.	5.76	3.83	0.44106	.	0.687468	0.15692	N	0.249388	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-3.4225	11.43	0.50034	0.1513:0.0:0.8487:0.0	.	.	.	.	X	409;461	.	ENSP00000288976:E461X	E	+	1	0	PTPDC1	95900056	1.000000	0.71417	0.004000	0.12327	0.271000	0.26615	2.938000	0.48987	0.695000	0.31675	0.655000	0.94253	GAG	-	NULL		0.542	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPDC1	protein_coding	OTTHUMT00000215007.1	G	NM_177995, NM_152422	-		96860235	+1	no_errors	ENST00000375360	ensembl	human	known	74_37	nonsense	SNP	0.427	T
HLA-V	352962	genome.wustl.edu	37	6	29759544	29759544	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:29759544G>A	ENST00000457107.1	+	0	0									major histocompatibility complex, class I, V (pseudogene)																		AAGAGTCCACGGGGACAGGTA	0.542																																																	0								ENSG00000181126																																			HLA-V			0			-	HGNC	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29759544G>A		Somatic	0	92	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000457107.1	37	NULL		6																																																																																			-	-		0.542	HLA-V-003	KNOWN	basic	processed_transcript	HLA-V	pseudogene	OTTHUMT00000105231.1	G	NG_002729	-		29759544	+1	no_errors	ENST00000446817	ensembl	human	known	74_37	rna	SNP	0.008	A
FBN3	84467	genome.wustl.edu	37	19	8188359	8188359	+	Missense_Mutation	SNP	C	C	T	rs151226812		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:8188359C>T	ENST00000600128.1	-	24	3485	c.3071G>A	c.(3070-3072)cGg>cAg	p.R1024Q	FBN3_ENST00000601739.1_Missense_Mutation_p.R1024Q|FBN3_ENST00000270509.2_Missense_Mutation_p.R1024Q			Q75N90	FBN3_HUMAN	fibrillin 3	1024	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGTGCAGTTCCGTTCCTGGGC	0.597																																																	0								ENSG00000142449	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	52.0	52.0	52.0		3071	2.4	0.6	19	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	missense	FBN3	NM_032447.3	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1024/2810	8188359	2,13004	2203	4300	6503	FBN3	SO:0001583	missense	0			-	HGNC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3071G>A	19.37:g.8188359C>T	ENSP00000470498:p.Arg1024Gln	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	21	34.38	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom	p.R1024Q	ENST00000600128.1	37	c.3071	CCDS12196.1	19	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179158	0.38511	2.27E-4	1.16E-4	ENSG00000142449	ENST00000270509	D	0.91894	-2.93	3.48	2.43	0.29744	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.050882	0.85682	U	0.000000	D	0.91002	0.7170	M	0.63843	1.955	0.40734	D	0.98277	D	0.55800	0.973	P	0.49853	0.624	D	0.87589	0.2489	10	0.23891	T	0.37	.	10.7987	0.46476	0.0:0.9037:0.0:0.0963	.	1024	Q75N90	FBN3_HUMAN	Q	1024	ENSP00000270509:R1024Q	ENSP00000270509:R1024Q	R	-	2	0	FBN3	8094359	0.994000	0.37717	0.596000	0.28811	0.300000	0.27592	2.799000	0.47892	0.577000	0.29470	0.484000	0.47621	CGG	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.597	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	protein_coding	OTTHUMT00000461428.2	C	NM_032447	rs151226812		8188359	-1	no_errors	ENST00000270509	ensembl	human	known	74_37	missense	SNP	1.000	T
LILRA1	11024	genome.wustl.edu	37	19	55107114	55107114	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:55107114G>A	ENST00000251372.3	+	6	854	c.672G>A	c.(670-672)aaG>aaA	p.K224K	LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	224	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GTGTTTCTAAGAAGCCATCAC	0.567																																																	0								ENSG00000104974						100.0	104.0	103.0					19																	55107114		2203	4300	6503	LILRA1	SO:0001819	synonymous_variant	0			-	HGNC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.672G>A	19.37:g.55107114G>A		Somatic	0	119	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	O75018|Q3MJA6	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.K224	ENST00000251372.3	37	c.672	CCDS12901.1	19																																																																																			-	pirsf_A1B_glyco/leuk_Ig-like_rcpt		0.567	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA1	protein_coding	OTTHUMT00000140807.2	G	NM_006863	-		55107114	+1	no_errors	ENST00000251372	ensembl	human	known	74_37	silent	SNP	0.007	A
LOC101927060	101927060	genome.wustl.edu	37	17	45177675	45177675	+	IGR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:45177675C>T								RP11-156P1.3 (32772 upstream) : CDC27 (17393 downstream)																							CTTCCGCCCTCCTCTGGCGCT	0.662																																																	0								ENSG00000262879																																			RP11-156P1.3	SO:0001628	intergenic_variant	0			-	Clone_based_vega_gene																													17.37:g.45177675C>T		Somatic	0	182	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	72	16.28		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL		37	NULL		17																																																																																			-	-	0	0.662					LOC101927060			C		-		45177675	-1	no_errors	ENST00000571665	ensembl	human	known	74_37	rna	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152555900	152555900	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:152555900delA	ENST00000367255.5	-	111	21033	c.20432delT	c.(20431-20433)ttafs	p.L6811fs	SYNE1_ENST00000423061.1_Frame_Shift_Del_p.L6740fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.L6423fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.L1335fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.L6740fs|SYNE1_ENST00000265368.4_Frame_Shift_Del_p.L6811fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6811					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGCAGATTGTAACCAGTGAAT	0.393										HNSCC(10;0.0054)																																							0								ENSG00000131018						99.0	94.0	96.0					6																	152555900		2203	4300	6503	SYNE1	SO:0001589	frameshift_variant	0				HGNC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20432delT	6.37:g.152555900delA	ENSP00000356224:p.Leu6811fs	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L6811fs	ENST00000367255.5	37	c.20432	CCDS5236.2	6																																																																																			-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	A	NM_182961			152555900	-1	no_errors	ENST00000265368	ensembl	human	known	74_37	frame_shift_del	DEL	0.998	-
C1orf185	284546	genome.wustl.edu	37	1	51584450	51584450	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:51584450C>T	ENST00000371759.2	+	3	235	c.235C>T	c.(235-237)Cat>Tat	p.H79Y	C1orf185_ENST00000467127.1_Missense_Mutation_p.H18Y|C1orf185_ENST00000474016.1_3'UTR	NM_001136508.1	NP_001129980.1	Q5T7R7	CA185_HUMAN	chromosome 1 open reading frame 185	79						integral component of membrane (GO:0016021)		p.0?(2)		endometrium(1)	1						TCGAAATTTTCATACTGGGAG	0.303																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)						ENSG00000204006						107.0	94.0	98.0					1																	51584450		692	1587	2279	C1orf185	SO:0001583	missense	0			-	HGNC	AK130995	CCDS44142.1	1p32.3	2012-07-27			ENSG00000204006	ENSG00000204006			28096	protein-coding gene	gene with protein product							Standard	NM_001136508		Approved	FLJ27485	uc001csh.3	Q5T7R7	OTTHUMG00000008084	ENST00000371759.2:c.235C>T	1.37:g.51584450C>T	ENSP00000360824:p.His79Tyr	Somatic	0	118	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	56	22.22	A6NHS3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.H79Y	ENST00000371759.2	37	c.235	CCDS44142.1	1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826438	0.71143	.	.	ENSG00000204006	ENST00000371759	.	.	.	4.69	4.69	0.59074	.	0.000000	0.37304	N	0.002153	T	0.58821	0.2149	N	0.24115	0.695	0.34574	D	0.71372	D	0.76494	0.999	D	0.87578	0.998	T	0.70357	-0.4894	9	0.87932	D	0	-9.2085	13.8256	0.63348	0.0:1.0:0.0:0.0	.	79	Q5T7R7	CA185_HUMAN	Y	79	.	ENSP00000360824:H79Y	H	+	1	0	C1orf185	51357038	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.243000	0.51392	2.519000	0.84933	0.591000	0.81541	CAT	-	NULL		0.303	C1orf185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf185	protein_coding	OTTHUMT00000022123.1	C	NM_001136508	-		51584450	+1	no_errors	ENST00000371759	ensembl	human	known	74_37	missense	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70387097	70387097	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:70387097C>T	ENST00000358741.3	+	7	1453	c.1150C>T	c.(1150-1152)Cct>Tct	p.P384S	NLGN3_ENST00000374051.3_Missense_Mutation_p.P364S|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Missense_Mutation_p.P344S	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	384					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TGATGTCATTCCTGATGACCC	0.552																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0								ENSG00000196338						124.0	88.0	100.0					X																	70387097		2203	4300	6503	NLGN3	SO:0001583	missense	0			-	HGNC	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1150C>T	X.37:g.70387097C>T	ENSP00000351591:p.Pro384Ser	Somatic	0	20	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	6	45.45	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.P384S	ENST00000358741.3	37	c.1150	CCDS55441.1	X	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101354	0.76983	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.86142	0.5862	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.79784	0.993;0.992;0.989	D	0.87653	0.2529	10	0.51188	T	0.08	.	17.8251	0.88662	0.0:1.0:0.0:0.0	.	344;384;364	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	S	344;247;364;344;384	ENSP00000445298:P344S;ENSP00000363163:P364S;ENSP00000379196:P344S;ENSP00000351591:P384S	ENSP00000351591:P384S	P	+	1	0	NLGN3	70303822	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.651000	0.83577	2.398000	0.81561	0.431000	0.28591	CCT	-	pfam_CarbesteraseB		0.552	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	protein_coding	OTTHUMT00000057121.1	C	NM_018977	-		70387097	+1	no_errors	ENST00000358741	ensembl	human	known	74_37	missense	SNP	1.000	T
MIR146B	574447	genome.wustl.edu	37	10	104196318	104196318	+	RNA	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:104196318T>C	ENST00000365699.2	+	0	50					NR_030169.1				microRNA 146b																		AGCAATGCCCTGTGGACTCAG	0.557																																																	0								ENSG00000202569						60.0	55.0	57.0					10																	104196318		1568	3582	5150	MIR146B			0			-	HGNC			10q24.32	2011-09-12		2008-12-18	ENSG00000202569	ENSG00000202569		"""ncRNAs / Micro RNAs"""	32079	non-coding RNA	RNA, micro		610567		MIRN146B			Standard	NR_030169		Approved	hsa-mir-146b	uc021pxj.1				10.37:g.104196318T>C		Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000365699.2	37	NULL		10																																																																																			-	-		0.557	MIR146B-201	KNOWN	basic	miRNA	MIR146B	miRNA		T	NR_030169	-		104196318	+1	no_errors	ENST00000365699	ensembl	human	known	74_37	rna	SNP	1.000	C
ACER1	125981	genome.wustl.edu	37	19	6307229	6307229	+	Nonsense_Mutation	SNP	C	C	T	rs201079840		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:6307229C>T	ENST00000301452.4	-	5	638	c.561G>A	c.(559-561)tgG>tgA	p.W187*		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	187					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGTCACTGATCCAGCTGGTCA	0.562																																																	0								ENSG00000167769						92.0	88.0	90.0					19																	6307229		2203	4300	6503	ACER1	SO:0001587	stop_gained	0			-	HGNC	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.561G>A	19.37:g.6307229C>T	ENSP00000301452:p.Trp187*	Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05		Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ceramidase	p.W187*	ENST00000301452.4	37	c.561	CCDS12161.1	19	.	.	.	.	.	.	.	.	.	.	C	27.7	4.852631	0.91355	.	.	ENSG00000167769	ENST00000301452	.	.	.	5.58	4.53	0.55603	.	0.055368	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.4984	13.4746	0.61301	0.1578:0.8422:0.0:0.0	.	.	.	.	X	187	.	ENSP00000301452:W187X	W	-	3	0	ACER1	6258229	1.000000	0.71417	0.994000	0.49952	0.732000	0.41865	6.656000	0.74396	1.336000	0.45506	0.561000	0.74099	TGG	-	pfam_Ceramidase		0.562	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACER1	protein_coding	OTTHUMT00000452982.1	C	NM_133492	-		6307229	-1	no_errors	ENST00000301452	ensembl	human	known	74_37	nonsense	SNP	1.000	T
WDR49	151790	genome.wustl.edu	37	3	167248902	167248902	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:167248902C>T	ENST00000308378.3	-	9	1468		c.e9+1		WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Splice_Site|WDR49_ENST00000476376.1_Splice_Site	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49											breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATATATTTTACCTGTCACTGC	0.358																																																	0								ENSG00000174776						44.0	47.0	46.0					3																	167248902		2203	4300	6503	WDR49	SO:0001630	splice_region_variant	0			-	HGNC	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1162+1G>A	3.37:g.167248902C>T		Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	Q8N297	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e8+1	ENST00000308378.3	37	c.1162+1	CCDS3201.1	3	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150948	0.57151	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000472600;ENST00000453925;ENST00000493061	.	.	.	5.55	5.55	0.83447	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0033	0.86386	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR49	168731596	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	4.251000	0.58778	2.626000	0.88956	0.557000	0.71058	.	-	-		0.358	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR49	protein_coding	OTTHUMT00000350592.3	C	NM_178824	-	Intron	167248902	-1	no_errors	ENST00000308378	ensembl	human	known	74_37	splice_site	SNP	1.000	T
OMG	4974	genome.wustl.edu	37	17	29622773	29622773	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29622773G>A	ENST00000247271.4	-	2	838	c.577C>T	c.(577-579)Ctc>Ttc	p.L193F	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	193					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AGATGTGTGAGATTTGTCAGG	0.378																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000126861						192.0	197.0	195.0					17																	29622773		2203	4300	6503	OMG	SO:0001583	missense	0			-	HGNC		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.577C>T	17.37:g.29622773G>A	ENSP00000247271:p.Leu193Phe	Somatic	0	99	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	50	21.88	E1P659	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L193F	ENST00000247271.4	37	c.577	CCDS11265.1	17	.	.	.	.	.	.	.	.	.	.	G	15.30	2.792907	0.50102	.	.	ENSG00000126861	ENST00000247271	T	0.80393	-1.37	5.72	5.72	0.89469	.	0.000000	0.56097	D	0.000039	D	0.93595	0.7955	H	0.95850	3.73	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.94733	0.7911	10	0.87932	D	0	-4.5305	20.269	0.98464	0.0:0.0:1.0:0.0	.	193	P23515	OMGP_HUMAN	F	193	ENSP00000247271:L193F	ENSP00000247271:L193F	L	-	1	0	OMG	26646899	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.188000	0.65093	2.878000	0.98634	0.650000	0.86243	CTC	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.378	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	protein_coding	OTTHUMT00000256350.2	G	NM_002544	-		29622773	-1	no_errors	ENST00000247271	ensembl	human	known	74_37	missense	SNP	1.000	A
CLEC4F	165530	genome.wustl.edu	37	2	71043961	71043961	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:71043961C>G	ENST00000272367.2	-	4	628	c.552G>C	c.(550-552)aaG>aaC	p.K184N	CLEC4F_ENST00000426626.1_Missense_Mutation_p.K184N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	184					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAAGGTCTTCCTTGAGCCTCT	0.443																																					Colon(107;10 2157 6841 26035)												0								ENSG00000152672						111.0	102.0	105.0					2																	71043961		2203	4300	6503	CLEC4F	SO:0001583	missense	0			-	HGNC	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.552G>C	2.37:g.71043961C>G	ENSP00000272367:p.Lys184Asn	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	31	13.89	A4QPA5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.K184N	ENST00000272367.2	37	c.552	CCDS1910.1	2	.	.	.	.	.	.	.	.	.	.	C	3.816	-0.038799	0.07497	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.51574	0.7;0.7	4.06	-4.57	0.03421	.	0.483859	0.17323	N	0.178412	T	0.36608	0.0973	M	0.66939	2.045	0.09310	N	1	B;B	0.26120	0.142;0.142	B;B	0.18263	0.021;0.021	T	0.27640	-1.0068	10	0.72032	D	0.01	.	6.5106	0.22220	0.1431:0.1949:0.0:0.662	.	184;184	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	N	184	ENSP00000272367:K184N;ENSP00000390581:K184N	ENSP00000272367:K184N	K	-	3	2	CLEC4F	70897469	0.000000	0.05858	0.004000	0.12327	0.152000	0.21847	-0.545000	0.06069	-0.872000	0.04037	-0.350000	0.07774	AAG	-	superfamily_Prefoldin		0.443	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	protein_coding	OTTHUMT00000251922.1	C	NM_173535	-		71043961	-1	no_errors	ENST00000272367	ensembl	human	known	74_37	missense	SNP	0.001	G
DGKD	8527	genome.wustl.edu	37	2	234358759	234358759	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234358759G>A	ENST00000264057.2	+	16	2032	c.2020G>A	c.(2020-2022)Ggg>Agg	p.G674R	DGKD_ENST00000409813.3_Missense_Mutation_p.G630R	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	674					blood coagulation (GO:0007596)|cell growth (GO:0016049)|diacylglycerol metabolic process (GO:0046339)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|protein homooligomerization (GO:0051260)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein transport (GO:0015031)|response to organic substance (GO:0010033)|second-messenger-mediated signaling (GO:0019932)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol binding (GO:0019992)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GGTCCCCAAGGGGAGGAGCCA	0.622																																																	0								ENSG00000077044						51.0	49.0	50.0					2																	234358759		2203	4300	6503	DGKD	SO:0001583	missense	0			-	HGNC	D63479	CCDS2504.1, CCDS46546.1	2q37	2013-01-10	2002-08-29		ENSG00000077044	ENSG00000077044		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2851	protein-coding gene	gene with protein product	"""diglyceride kinase"""	601826	"""diacylglycerol kinase, delta (130kD)"""			8626538, 12810723	Standard	NM_003648		Approved	KIAA0145, DGKdelta	uc002vui.1	Q16760	OTTHUMG00000133290	ENST00000264057.2:c.2020G>A	2.37:g.234358759G>A	ENSP00000264057:p.Gly674Arg	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	9	43.75	Q14158|Q6PK55|Q8NG53	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.G674R	ENST00000264057.2	37	c.2020	CCDS2504.1	2	.	.	.	.	.	.	.	.	.	.	G	9.432	1.085802	0.20390	.	.	ENSG00000077044	ENST00000264057;ENST00000409813	T;T	0.79352	-1.09;-1.26	4.37	2.55	0.30701	.	0.726265	0.12981	N	0.423265	T	0.65719	0.2718	L	0.47716	1.5	0.26509	N	0.974627	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.10450	0.002;0.001;0.005	T	0.49661	-0.8916	10	0.16896	T	0.51	.	4.8365	0.13468	0.0803:0.1505:0.6128:0.1563	.	558;630;674	Q53SE4;Q16760-2;Q16760	.;.;DGKD_HUMAN	R	674;630	ENSP00000264057:G674R;ENSP00000386455:G630R	ENSP00000264057:G674R	G	+	1	0	DGKD	234023498	1.000000	0.71417	0.227000	0.23927	0.552000	0.35366	2.958000	0.49145	0.413000	0.25759	0.561000	0.74099	GGG	-	NULL		0.622	DGKD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKD	protein_coding	OTTHUMT00000257072.2	G	NM_003648	-		234358759	+1	no_errors	ENST00000264057	ensembl	human	known	74_37	missense	SNP	0.634	A
EPPK1	83481	genome.wustl.edu	37	8	144946231	144946231	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:144946231G>A	ENST00000525985.1	-	2	1262	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A				P58107	EPIPL_HUMAN	epiplakin 1	397						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCAGCTGGGCATCCAAGA	0.677																																																	0								ENSG00000227184						4.0	5.0	5.0					8																	144946231		1908	4001	5909	EPPK1	SO:0001819	synonymous_variant	0			-	HGNC	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1191C>T	8.37:g.144946231G>A		Somatic	0	9	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56	Q76E58|Q9NSU9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Plectin_repeat,smart_Plectin_repeat	p.A397	ENST00000525985.1	37	c.1191		8																																																																																			-	pfam_Plectin_repeat,smart_Plectin_repeat		0.677	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	EPPK1	protein_coding	OTTHUMT00000382675.1	G	NM_031308	-		144946231	-1	no_errors	ENST00000525985	ensembl	human	known	74_37	silent	SNP	0.870	A
MOB1B	92597	genome.wustl.edu	37	4	71768104	71768104	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:71768104G>A	ENST00000309395.2	+	0	52				MOB1B_ENST00000396051.2_5'UTR|MOB1B_ENST00000511449.1_3'UTR	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B						hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										TAGCTGAGCCGAACTAGTTGC	0.647																																																	0								ENSG00000173542																																			MOB1B	SO:0001623	5_prime_UTR_variant	0			-	HGNC	BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.-150G>A	4.37:g.71768104G>A		Somatic	1	145	0.68		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	54	26.03	B2R8U6|B4DRY3|Q8IY23	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000309395.2	37	NULL	CCDS34002.1	4																																																																																			-	-		0.647	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	protein_coding	OTTHUMT00000362634.1	G	NM_173468	-		71768104	+1	no_errors	ENST00000511449	ensembl	human	known	74_37	rna	SNP	0.001	A
FCRL2	79368	genome.wustl.edu	37	1	157739747	157739747	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:157739747C>T	ENST00000361516.3	-	4	552	c.504G>A	c.(502-504)tgG>tgA	p.W168*	FCRL2_ENST00000469986.1_5'Flank|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.W168*|FCRL2_ENST00000368181.4_Intron	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	168	Ig-like C2-type 2.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGTCTTCACTCCACACGGCAG	0.527																																																	0								ENSG00000132704						75.0	77.0	76.0					1																	157739747		2203	4300	6503	FCRL2	SO:0001587	stop_gained	0			-	HGNC	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.504G>A	1.37:g.157739747C>T	ENSP00000355157:p.Trp168*	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W168*	ENST00000361516.3	37	c.504	CCDS1168.1	1	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424761	0.62733	.	.	ENSG00000132704	ENST00000361516;ENST00000392274	.	.	.	4.41	3.49	0.39957	.	2.052840	0.02644	N	0.105683	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.0734	0.30701	0.0:0.89:0.0:0.11	.	.	.	.	X	168	.	ENSP00000355157:W168X	W	-	3	0	FCRL2	156006371	0.006000	0.16342	0.036000	0.18154	0.036000	0.12997	1.232000	0.32636	1.201000	0.43203	0.591000	0.81541	TGG	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.527	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL2	protein_coding	OTTHUMT00000051408.2	C	NM_030764	-		157739747	-1	no_errors	ENST00000361516	ensembl	human	known	74_37	nonsense	SNP	0.101	T
NACC1	112939	genome.wustl.edu	37	19	13247128	13247128	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:13247128C>T	ENST00000292431.4	+	3	1155	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	343					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear body (GO:0016604)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						TGGCGTCTCTCCCGGCTGAAC	0.652																																																	0								ENSG00000160877						77.0	74.0	75.0					19																	13247128		2203	4300	6503	NACC1	SO:0001819	synonymous_variant	0			-	HGNC	AF395817	CCDS12294.1	19p13.13	2013-01-09	2008-10-03	2008-10-03		ENSG00000160877		"""BEN domain containing"", ""BTB/POZ domain containing"""	20967	protein-coding gene	gene with protein product	"""nucleus accumbens associated 1"", ""BEN domain containing 8"""	610672	"""BTB (POZ) domain containing 14B"""	BTBD14B		12477932	Standard	NM_052876		Approved	NAC1, NAC-1, BEND8, BTBD30	uc002mwm.4	Q96RE7		ENST00000292431.4:c.1029C>T	19.37:g.13247128C>T		Somatic	0	101	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	42	17.65		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_BTB_POZ,pfam_BEN_domain,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.L343	ENST00000292431.4	37	c.1029	CCDS12294.1	19																																																																																			-	NULL		0.652	NACC1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NACC1	protein_coding	OTTHUMT00000452879.1	C	NM_052876	-		13247128	+1	no_errors	ENST00000292431	ensembl	human	known	74_37	silent	SNP	0.497	T
NEB	4703	genome.wustl.edu	37	2	152477456	152477456	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:152477456C>T	ENST00000172853.10	-	68	9955	c.9808G>A	c.(9808-9810)Gcc>Acc	p.A3270T	NEB_ENST00000427231.2_Missense_Mutation_p.A3513T|NEB_ENST00000603639.1_Missense_Mutation_p.A3513T|NEB_ENST00000409198.1_Missense_Mutation_p.A3270T|NEB_ENST00000397345.3_Missense_Mutation_p.A3513T|NEB_ENST00000604864.1_Missense_Mutation_p.A3513T			P20929	NEBU_HUMAN	nebulin	3270					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCCGAGAGGCCTTGGCAGCC	0.483																																																	0								ENSG00000183091						80.0	82.0	81.0					2																	152477456		1964	4147	6111	NEB	SO:0001583	missense	0			-	HGNC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.9808G>A	2.37:g.152477456C>T	ENSP00000172853:p.Ala3270Thr	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A3513T	ENST00000172853.10	37	c.10537		2	.	.	.	.	.	.	.	.	.	.	C	36	5.776506	0.96922	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.69	5.69	0.88448	.	0.102039	0.64402	D	0.000003	T	0.71525	0.3350	M	0.80332	2.49	0.80722	D	1	D	0.61697	0.99	D	0.68353	0.957	T	0.72200	-0.4362	10	0.54805	T	0.06	.	19.7914	0.96458	0.0:1.0:0.0:0.0	.	3270	P20929	NEBU_HUMAN	T	3270;3513;3513;3270	ENSP00000386259:A3270T;ENSP00000380505:A3513T;ENSP00000416578:A3513T;ENSP00000172853:A3270T	ENSP00000172853:A3270T	A	-	1	0	NEB	152185702	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.638000	0.67861	2.840000	0.97914	0.655000	0.94253	GCC	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.483	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152477456	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	T
SF1	7536	genome.wustl.edu	37	11	64532986	64532986	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:64532986G>A	ENST00000377390.3	-	0	2561				SF1_ENST00000489544.1_5'Flank|SF1_ENST00000227503.9_Silent_p.S529S|SF1_ENST00000377387.1_Silent_p.S654S|SF1_ENST00000334944.5_Missense_Mutation_p.P598S|SF1_ENST00000422298.2_Silent_p.S414S|SF1_ENST00000377394.3_Missense_Mutation_p.P531S	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1						Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CCGCGGGGAGGGATCCTGGCG	0.642																																																	0								ENSG00000168066						55.0	66.0	62.0					11																	64532986		2201	4297	6498	SF1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.*304C>T	11.37:g.64532986G>A		Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	38	14.89	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.P598S	ENST00000377390.3	37	c.1792	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425809	0.43020	.	.	ENSG00000168066	ENST00000377394;ENST00000334944	T;T	0.64085	-0.08;0.94	5.54	5.54	0.83059	.	.	.	.	.	T	0.48995	0.1531	.	.	.	0.80722	D	1	B;B	0.24920	0.014;0.114	B;B	0.16289	0.015;0.011	T	0.40701	-0.9549	7	.	.	.	.	14.9859	0.71348	0.0:0.0:1.0:0.0	.	531;598	Q15637-6;Q15637-2	.;.	S	531;598	ENSP00000366611:P531S;ENSP00000334414:P598S	.	P	-	1	0	SF1	64289562	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.242000	0.51384	2.607000	0.88179	0.462000	0.41574	CCT	-	NULL		0.642	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	protein_coding	OTTHUMT00000143242.1	G	NM_004630	-		64532986	-1	no_errors	ENST00000334944	ensembl	human	known	74_37	missense	SNP	1.000	A
LINC00266-1	140849	genome.wustl.edu	37	20	62934771	62934771	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:62934771G>A	ENST00000279067.3	+	0	787					NR_040415.1				long intergenic non-protein coding RNA 266-1																		CTTTTAAGTAGAGCAGAACCT	0.338																																																	0								ENSG00000149656																																			LINC00266-1			0			-	HGNC	BC118988		20q13.33	2012-10-12	2011-08-11	2011-08-11	ENSG00000149656	ENSG00000149656		"""Long non-coding RNAs"""	16202	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 69"", ""non-protein coding RNA 266"", ""non-protein coding RNA 266-1"""	C20orf69, NCRNA00266, NCRNA00266-1			Standard	NR_040415		Approved	bA476I15.3	uc002yio.1		OTTHUMG00000033036		20.37:g.62934771G>A		Somatic	1	104	0.95		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	47	35.62		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000279067.3	37	NULL		20																																																																																			-	-		0.338	LINC00266-1-001	KNOWN	basic	processed_transcript	LINC00266-1	processed_transcript	OTTHUMT00000080304.2	G		-		62934771	+1	no_errors	ENST00000279067	ensembl	human	known	74_37	rna	SNP	0.225	A
GSAP	54103	genome.wustl.edu	37	7	76940712	76940712	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:76940712G>A	ENST00000257626.7	-	31	2606	c.2528C>T	c.(2527-2529)gCa>gTa	p.A843V	GSAP_ENST00000440473.1_5'Flank|GSAP_ENST00000441833.2_Missense_Mutation_p.A164V	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	843					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										TTTCAGAGCTGCTTCCTCTAC	0.433																																																	0								ENSG00000186088						110.0	104.0	106.0					7																	76940712		1887	4122	6009	GSAP	SO:0001583	missense	0			-	HGNC		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2528C>T	7.37:g.76940712G>A	ENSP00000257626:p.Ala843Val	Somatic	0	113	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A843V	ENST00000257626.7	37	c.2528	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184774	0.78677	.	.	ENSG00000186088	ENST00000257626;ENST00000441833	T	0.18810	2.19	5.53	5.53	0.82687	.	0.063724	0.64402	D	0.000007	T	0.30417	0.0764	M	0.65975	2.015	0.40846	D	0.983716	P	0.47191	0.891	P	0.45610	0.487	T	0.02837	-1.1104	10	0.41790	T	0.15	.	15.3089	0.74016	0.0:0.0:1.0:0.0	.	843	A4D1B5	GSAP_HUMAN	V	843;164	ENSP00000257626:A843V	ENSP00000257626:A843V	A	-	2	0	PION	76778648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.052000	0.49893	2.750000	0.94351	0.655000	0.94253	GCA	-	NULL		0.433	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSAP	protein_coding	OTTHUMT00000318672.2	G	NM_017439	-		76940712	-1	no_errors	ENST00000257626	ensembl	human	known	74_37	missense	SNP	1.000	A
CAT	847	genome.wustl.edu	37	11	34490058	34490058	+	Intron	DEL	A	A	-	rs534253738		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:34490058delA	ENST00000241052.4	+	11	1523					NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase						aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAGAGAACTTAAAAAAAAAAA	0.393																																																	0								ENSG00000121691																																			CAT	SO:0001627	intron_variant	0				HGNC	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1434+116A>-	11.37:g.34490058delA		Somatic	0	12	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	13	18.75	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000241052.4	37	NULL	CCDS7891.1	11																																																																																			-	-		0.393	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	protein_coding	OTTHUMT00000103197.2	A	NM_001752			34490058	+1	no_errors	ENST00000525707	ensembl	human	putative	74_37	rna	DEL	0.000	-
ZNF529	57711	genome.wustl.edu	37	19	37047081	37047081	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:37047081G>A	ENST00000591340.1	-	3	191	c.33C>T	c.(31-33)gtC>gtT	p.V11V	ZNF529_ENST00000334116.7_5'UTR	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					gagctccatggacatgatccc	0.378																																																	0								ENSG00000186020						133.0	114.0	120.0					19																	37047081		692	1591	2283	ZNF529	SO:0001819	synonymous_variant	0			-	HGNC	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.33C>T	19.37:g.37047081G>A		Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	16	38.46	K7EKE1|Q9H731|Q9HCF7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V11	ENST00000591340.1	37	c.33	CCDS54256.1	19																																																																																			-	NULL		0.378	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF529	protein_coding	OTTHUMT00000452730.1	G	NM_020951	-		37047081	-1	no_errors	ENST00000591340	ensembl	human	known	74_37	silent	SNP	0.002	A
AURKC	6795	genome.wustl.edu	37	19	57746716	57746716	+	Silent	SNP	C	C	T	rs565008485		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:57746716C>T	ENST00000302804.7	+	7	1047	c.861C>T	c.(859-861)atC>atT	p.I287I	AURKC_ENST00000415300.2_Silent_p.I268I|AURKC_ENST00000599062.1_Silent_p.I284I|AURKC_ENST00000598785.1_Silent_p.I253I|AURKC_ENST00000448930.1_Silent_p.I253I	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	287	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGGCCCAGATCCTGAAGCACC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		14377	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000105146						74.0	76.0	75.0					19																	57746716		2203	4300	6503	AURKC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.861C>T	19.37:g.57746716C>T		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I287	ENST00000302804.7	37	c.861	CCDS33128.1	19																																																																																			-	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		0.592	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	protein_coding	OTTHUMT00000465089.1	C	NM_003160	-		57746716	+1	no_errors	ENST00000302804	ensembl	human	known	74_37	silent	SNP	0.301	T
GARNL3	84253	genome.wustl.edu	37	9	130005438	130005438	+	IGR	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:130005438T>C								RALGPS1 (19995 upstream) : GARNL3 (20502 downstream)																							CAAACCATTCTATGGAAAGCA	0.527																																																	0								ENSG00000136895						43.0	38.0	40.0					9																	130005438		876	1991	2867	GARNL3	SO:0001628	intergenic_variant	0			-	HGNC																													9.37:g.130005438T>C		Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	29	39.58		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L18P		37	c.53		9	.	.	.	.	.	.	.	.	.	.	T	11.58	1.681417	0.29872	.	.	ENSG00000136895	ENST00000439286;ENST00000444677;ENST00000446764;ENST00000373399	T;T	0.50548	1.75;0.74	4.79	3.67	0.42095	.	.	.	.	.	T	0.45397	0.1340	.	.	.	0.40361	D	0.979244	.	.	.	.	.	.	T	0.37888	-0.9686	5	.	.	.	.	6.3697	0.21475	0.0:0.107:0.0:0.893	.	.	.	.	P	18	ENSP00000400579:L18P;ENSP00000411160:L18P	.	L	+	2	0	GARNL3	129045259	0.365000	0.25006	0.349000	0.25694	0.693000	0.40251	1.256000	0.32921	2.088000	0.63022	0.455000	0.32223	CTA	-	NULL	0	0.527					GARNL3			T		-		130005438	+1	no_errors	ENST00000429629	ensembl	human	known	74_37	missense	SNP	0.582	C
OR4C46	119749	genome.wustl.edu	37	11	51516172	51516172	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:51516172G>A	ENST00000328188.1	+	1	891	c.891G>A	c.(889-891)agG>agA	p.R297R		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						ATGCCATCAGGAAATTGTGTA	0.348																																																	0								ENSG00000185926						45.0	39.0	41.0					11																	51516172		2197	4286	6483	OR4C46	SO:0001819	synonymous_variant	0			-	HGNC		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.891G>A	11.37:g.51516172G>A		Somatic	0	32	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R297	ENST00000328188.1	37	c.891	CCDS31498.1	11																																																																																			-	NULL		0.348	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	protein_coding	OTTHUMT00000391155.1	G	NM_001004703	-		51516172	+1	no_errors	ENST00000328188	ensembl	human	known	74_37	silent	SNP	0.335	A
CELA3B	23436	genome.wustl.edu	37	1	22310715	22310715	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:22310715C>T	ENST00000337107.6	+	6	552	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	178	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|proteolysis (GO:0006508)		peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCAGGAGGCCCTGCTGCCG	0.632																																																	0								ENSG00000219073						73.0	70.0	71.0					1																	22310715		2203	4300	6503	CELA3B	SO:0001583	missense	0			-	HGNC	M18692	CCDS219.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000219073	ENSG00000219073	3.4.21.70		15945	protein-coding gene	gene with protein product	"""proteinase E"", ""elastase 1"", ""cholesterol-binding pancreatic protease"", ""pancreatic endopeptidase E"""		"""elastase 3B, pancreatic"""	ELA3B		2826474, 2460440	Standard	NM_007352		Approved	CBPP	uc001bfk.3	P08861	OTTHUMG00000002758	ENST00000337107.6:c.533C>T	1.37:g.22310715C>T	ENSP00000338369:p.Ala178Val	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	22	46.34	B2RE44|P11423|Q5VU28|Q5VU29|Q5VU30	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.A178V	ENST00000337107.6	37	c.533	CCDS219.1	1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759581	0.69763	.	.	ENSG00000219073	ENST00000337107;ENST00000400277	T;T	0.15834	2.39;2.39	4.53	3.58	0.41010	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.058802	0.64402	D	0.000003	T	0.21509	0.0518	N	0.16833	0.445	0.52501	D	0.999957	P	0.48834	0.916	P	0.59221	0.854	T	0.03077	-1.1075	10	0.59425	D	0.04	-32.6796	12.4369	0.55604	0.0:0.8291:0.1709:0.0	.	178	P08861	CEL3B_HUMAN	V	178;81	ENSP00000338369:A178V;ENSP00000383135:A81V	ENSP00000338369:A178V	A	+	2	0	CELA3B	22183302	1.000000	0.71417	0.969000	0.41365	0.306000	0.27790	5.754000	0.68743	0.988000	0.38734	0.650000	0.86243	GCC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.632	CELA3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA3B	protein_coding	OTTHUMT00000007797.1	C	NM_007352	-		22310715	+1	no_errors	ENST00000337107	ensembl	human	known	74_37	missense	SNP	1.000	T
RRAS	6237	genome.wustl.edu	37	19	50143295	50143295	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50143295G>A	ENST00000246792.3	-	1	163	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	SCAF1_ENST00000360565.3_5'Flank	NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	21					axon guidance (GO:0007411)|negative regulation of cell migration (GO:0030336)|positive regulation of angiogenesis (GO:0045766)|Ras protein signal transduction (GO:0007265)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GGGTCCCCGGGCCCAGGTccc	0.761																																																	0								ENSG00000126458						3.0	4.0	4.0					19																	50143295		1953	3861	5814	RRAS	SO:0001583	missense	0			-	HGNC		CCDS12774.1	19q13.33	2014-05-09				ENSG00000126458			10447	protein-coding gene	gene with protein product	"""Oncogene RRAS"""	165090				3098437	Standard	NM_006270		Approved		uc002pop.1	P10301		ENST00000246792.3:c.61C>T	19.37:g.50143295G>A	ENSP00000246792:p.Pro21Ser	Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	Q6FH12	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.P21S	ENST00000246792.3	37	c.61	CCDS12774.1	19	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411565	0.83340	.	.	ENSG00000126458	ENST00000246792	T	0.68765	-0.35	4.58	3.48	0.39840	.	0.000000	0.42053	D	0.000778	T	0.41213	0.1149	N	0.08118	0	0.33213	D	0.553624	P	0.41313	0.745	B	0.36608	0.229	T	0.52193	-0.8608	10	0.17369	T	0.5	.	12.4867	0.55877	0.0:0.1688:0.8312:0.0	.	21	P10301	RRAS_HUMAN	S	21	ENSP00000246792:P21S	ENSP00000246792:P21S	P	-	1	0	RRAS	54835107	0.976000	0.34144	0.990000	0.47175	0.936000	0.57629	1.626000	0.37039	2.385000	0.81259	0.555000	0.69702	CCC	-	NULL		0.761	RRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRAS	protein_coding	OTTHUMT00000465791.1	G	NM_006270	-		50143295	-1	no_errors	ENST00000246792	ensembl	human	known	74_37	missense	SNP	0.998	A
LOC101929232	101929232	genome.wustl.edu	37	15	29084011	29084011	+	IGR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:29084011C>T								RP11-578F21.12 (30567 upstream) : GOLGA6L7P (6095 downstream)																							ATCTGACGCTCCTTTTCTAAA	0.353																																																	0								ENSG00000261377																																			RP11-578F21.12	SO:0001628	intergenic_variant	0			-	Clone_based_vega_gene																													15.37:g.29084011C>T		Somatic	0	126	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	58	22.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL		37	NULL		15																																																																																			-	-	0	0.353					LOC101929232			C		-		29084011	+1	no_errors	ENST00000563144	ensembl	human	putative	74_37	rna	SNP	0.115	T
ZNF257	113835	genome.wustl.edu	37	19	22256325	22256325	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:22256325C>T	ENST00000594947.1	+	3	329	c.185C>T	c.(184-186)cCc>cTc	p.P62L	ZNF257_ENST00000600162.1_Missense_Mutation_p.P62L	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	62	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				GGAAAAGAGCCCTGTAATATG	0.443																																																	0								ENSG00000197134						143.0	156.0	151.0					19																	22256325		2203	4300	6503	ZNF257	SO:0001583	missense	0			-	HGNC	AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.185C>T	19.37:g.22256325C>T	ENSP00000470209:p.Pro62Leu	Somatic	0	100	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P62L	ENST00000594947.1	37	c.185	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	8.671	0.902853	0.17760	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	0.86	0.86	0.19042	Krueppel-associated box (2);	.	.	.	.	T	0.36496	0.0969	L	0.61036	1.89	0.09310	N	0.999999	B	0.28971	0.229	B	0.29524	0.103	T	0.36311	-0.9753	8	0.59425	D	0.04	.	4.9378	0.13950	0.0:1.0:0.0:0.0	.	62	Q9Y2Q1	ZN257_HUMAN	L	62	.	ENSP00000380312:P62L	P	+	2	0	ZNF257	22048165	0.097000	0.21791	0.102000	0.21198	0.103000	0.19146	0.362000	0.20284	0.300000	0.22699	0.306000	0.20318	CCC	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.443	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	protein_coding	OTTHUMT00000464382.1	C		-		22256325	+1	no_errors	ENST00000594947	ensembl	human	known	74_37	missense	SNP	0.124	T
OR10A7	121364	genome.wustl.edu	37	12	55615216	55615216	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:55615216G>A	ENST00000326258.1	+	1	408	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	136						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CAGTCATAATGAACAGGTCCC	0.468																																																	0								ENSG00000179919						139.0	122.0	128.0					12																	55615216		2203	4300	6503	OR10A7	SO:0001583	missense	0			-	HGNC	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.408G>A	12.37:g.55615216G>A	ENSP00000326718:p.Met136Ile	Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	25	39.02	Q6IFD5|Q96R19	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M136I	ENST00000326258.1	37	c.408	CCDS31815.1	12	.	.	.	.	.	.	.	.	.	.	g	17.56	3.421080	0.62622	.	.	ENSG00000179919	ENST00000326258	T	0.01185	5.21	3.05	3.05	0.35203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000231	T	0.04907	0.0132	M	0.85373	2.75	0.35485	D	0.79849	D	0.56968	0.978	P	0.53146	0.719	T	0.35847	-0.9772	10	0.62326	D	0.03	.	14.2018	0.65710	0.0:0.0:1.0:0.0	.	136	Q8NGE5	O10A7_HUMAN	I	136	ENSP00000326718:M136I	ENSP00000326718:M136I	M	+	3	0	OR10A7	53901483	1.000000	0.71417	0.994000	0.49952	0.808000	0.45660	5.577000	0.67444	1.729000	0.51567	0.637000	0.83480	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10A7	protein_coding	OTTHUMT00000406308.1	G		-		55615216	+1	no_errors	ENST00000326258	ensembl	human	known	74_37	missense	SNP	1.000	A
RASEF	158158	genome.wustl.edu	37	9	85613338	85613338	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:85613338G>A	ENST00000376447.3	-	13	2007	c.1747C>T	c.(1747-1749)Ctc>Ttc	p.L583F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	583					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCACAATGAGGGTTTTCATT	0.453																																																	0								ENSG00000165105						167.0	157.0	160.0					9																	85613338		2203	4300	6503	RASEF	SO:0001583	missense	0			-	HGNC	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1747C>T	9.37:g.85613338G>A	ENSP00000365630:p.Leu583Phe	Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	36	20.00	A6NC29|Q96N04	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.L583F	ENST00000376447.3	37	c.1747	CCDS6662.1	9	.	.	.	.	.	.	.	.	.	.	G	24.3	4.515617	0.85389	.	.	ENSG00000165105	ENST00000376447	T	0.80653	-1.4	5.57	5.57	0.84162	Small GTP-binding protein domain (1);	0.071549	0.56097	D	0.000031	D	0.83128	0.5187	L	0.49778	1.585	0.80722	D	1	D	0.55800	0.973	P	0.57152	0.814	T	0.82631	-0.0362	10	0.45353	T	0.12	.	11.7629	0.51914	0.0813:0.0:0.9187:0.0	.	583	Q8IZ41	RASEF_HUMAN	F	583	ENSP00000365630:L583F	ENSP00000365630:L583F	L	-	1	0	RASEF	84803158	1.000000	0.71417	0.421000	0.26609	0.955000	0.61496	4.798000	0.62510	2.614000	0.88457	0.655000	0.94253	CTC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.453	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASEF	protein_coding	OTTHUMT00000052825.1	G	NM_152573	-		85613338	-1	no_errors	ENST00000376447	ensembl	human	known	74_37	missense	SNP	0.993	A
TRIM71	131405	genome.wustl.edu	37	3	32933059	32933059	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:32933059G>A	ENST00000383763.5	+	4	2426	c.2363G>A	c.(2362-2364)gGc>gAc	p.G788D		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	788					fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGCTCGGAGGGCACAGGCAAT	0.587																																																	0								ENSG00000206557						51.0	55.0	54.0					3																	32933059		2015	4185	6200	TRIM71	SO:0001583	missense	0			-	HGNC		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.2363G>A	3.37:g.32933059G>A	ENSP00000373272:p.Gly788Asp	Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING	p.G788D	ENST00000383763.5	37	c.2363	CCDS43060.1	3	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648022	0.67358	.	.	ENSG00000206557	ENST00000383763	D	0.89343	-2.5	5.81	5.81	0.92471	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.96297	0.8792	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96787	0.9579	10	0.66056	D	0.02	-40.8851	18.6466	0.91413	0.0:0.0:1.0:0.0	.	788	Q2Q1W2	LIN41_HUMAN	D	788	ENSP00000373272:G788D	ENSP00000373272:G788D	G	+	2	0	TRIM71	32908063	1.000000	0.71417	1.000000	0.80357	0.617000	0.37484	9.824000	0.99380	2.744000	0.94065	0.655000	0.94253	GGC	-	pfscan_NHL_repeat_subgr		0.587	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM71	protein_coding	OTTHUMT00000341565.3	G	NM_001039111	-		32933059	+1	no_errors	ENST00000383763	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF418	147686	genome.wustl.edu	37	19	58441844	58441844	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:58441844G>A	ENST00000396147.1	-	3	376	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F	ZNF418_ENST00000595830.1_Missense_Mutation_p.L29F|ZNF418_ENST00000425570.3_Missense_Mutation_p.L50F|ZNF418_ENST00000600989.1_Missense_Mutation_p.L29F|ZNF418_ENST00000599852.1_Intron	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	29	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TCATGGTAAAGGCATCTCTGA	0.498																																																	0								ENSG00000196724						179.0	170.0	173.0					19																	58441844		2203	4300	6503	ZNF418	SO:0001583	missense	0			-	HGNC	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.85C>T	19.37:g.58441844G>A	ENSP00000379451:p.Leu29Phe	Somatic	0	178	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	72	17.24	Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L29F	ENST00000396147.1	37	c.85	CCDS42642.1	19	.	.	.	.	.	.	.	.	.	.	.	14.48	2.548862	0.45383	.	.	ENSG00000196724	ENST00000396147;ENST00000425570	T;T	0.04406	3.63;3.63	2.75	-0.999	0.10208	Krueppel-associated box (4);	.	.	.	.	T	0.29524	0.0736	H	0.98542	4.26	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.04961	-1.0915	9	0.87932	D	0	.	6.7752	0.23617	0.3611:0.0:0.6389:0.0	.	29	Q8TF45	ZN418_HUMAN	F	29;50	ENSP00000379451:L29F;ENSP00000407039:L50F	ENSP00000379451:L29F	L	-	1	0	ZNF418	63133656	0.114000	0.22134	0.000000	0.03702	0.269000	0.26545	0.838000	0.27572	-0.237000	0.09739	0.313000	0.20887	CTT	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.498	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ZNF418	protein_coding	OTTHUMT00000466693.1	G	NM_133460	-		58441844	-1	no_errors	ENST00000396147	ensembl	human	known	74_37	missense	SNP	0.003	A
SRL	6345	genome.wustl.edu	37	16	4242486	4242486	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:4242486C>T	ENST00000399609.3	-	6	1102	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	SRL_ENST00000537996.1_Missense_Mutation_p.G322R	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	823	Acidic domain, probably binds calcium. {ECO:0000250}.					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						ACCAGTTCTCCATCACTGAAG	0.498																																																	0								ENSG00000185739						96.0	99.0	98.0					16																	4242486		2049	4210	6259	SRL	SO:0001583	missense	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.1090G>A	16.37:g.4242486C>T	ENSP00000382518:p.Gly364Arg	Somatic	0	104	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynamin_GTPase,pfam_GTP_binding_domain,superfamily_P-loop_NTPase	p.G364R	ENST00000399609.3	37	c.1090	CCDS42113.1	16	.	.	.	.	.	.	.	.	.	.	C	12.44	1.937478	0.34189	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	T;T	0.28895	1.59;1.59	5.71	5.71	0.89125	.	0.146689	0.45606	U	0.000348	T	0.25269	0.0614	N	0.16368	0.405	0.54753	D	0.999984	P	0.49090	0.919	B	0.43103	0.408	T	0.01729	-1.1286	10	0.30854	T	0.27	-15.2766	19.8525	0.96745	0.0:1.0:0.0:0.0	.	364	Q86TD4-2	.	R	364;822;322	ENSP00000382518:G364R;ENSP00000440350:G322R	ENSP00000333285:G822R	G	-	1	0	SRL	4182487	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.146000	0.71777	2.681000	0.91329	0.655000	0.94253	GGA	-	NULL		0.498	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRL	protein_coding	OTTHUMT00000438087.1	C	XM_064152	-		4242486	-1	no_errors	ENST00000399609	ensembl	human	known	74_37	missense	SNP	1.000	T
PKD2L1	9033	genome.wustl.edu	37	10	102049786	102049786	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:102049786G>A	ENST00000318222.3	-	14	2618	c.2236C>T	c.(2236-2238)Ccc>Tcc	p.P746S	PKD2L1_ENST00000353274.3_Missense_Mutation_p.P746S|PKD2L1_ENST00000338519.3_Missense_Mutation_p.P671S	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	746	Required for protein homotrimerization.				cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCTGGGGAGGGAGCCAGCCAC	0.557																																																	0								ENSG00000107593						88.0	81.0	83.0					10																	102049786		2203	4300	6503	PKD2L1	SO:0001583	missense	0			-	HGNC	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.2236C>T	10.37:g.102049786G>A	ENSP00000325296:p.Pro746Ser	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.P746S	ENST00000318222.3	37	c.2236	CCDS7492.1	10	.	.	.	.	.	.	.	.	.	.	G	12.75	2.032097	0.35893	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	T;T;T	0.58940	0.44;0.3;0.31	5.49	-6.12	0.02124	.	1.028690	0.07687	N	0.938095	T	0.40791	0.1131	L	0.33485	1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.29761	-1.0001	10	0.38643	T	0.18	-0.156	9.3526	0.38147	0.5945:0.1053:0.3002:0.0	.	699;746	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	S	671;746;746;744	ENSP00000345068:P671S;ENSP00000266049:P746S;ENSP00000325296:P746S	ENSP00000325296:P746S	P	-	1	0	PKD2L1	102039776	0.000000	0.05858	0.000000	0.03702	0.422000	0.31414	-0.004000	0.12878	-1.185000	0.02716	0.305000	0.20034	CCC	-	NULL		0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	protein_coding	OTTHUMT00000049863.2	G	NM_016112	-		102049786	-1	no_errors	ENST00000318222	ensembl	human	known	74_37	missense	SNP	0.000	A
UNC80	285175	genome.wustl.edu	37	2	210685266	210685266	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:210685266C>T	ENST00000439458.1	+	13	2274	c.2194C>T	c.(2194-2196)Cct>Tct	p.P732S	UNC80_ENST00000272845.6_Missense_Mutation_p.P732S	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	732	Gly-rich.				ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ATTCGGAGGCCCTGCTGTTAG	0.537																																																	0								ENSG00000144406						72.0	71.0	71.0					2																	210685266		692	1591	2283	UNC80	SO:0001583	missense	0			-	HGNC	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.2194C>T	2.37:g.210685266C>T	ENSP00000391088:p.Pro732Ser	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P732S	ENST00000439458.1	37	c.2194	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	C	11.30	1.596630	0.28445	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.39787	1.06;1.06	5.94	0.437	0.16555	.	.	.	.	.	T	0.17152	0.0412	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.08411	-1.0723	9	0.23891	T	0.37	-4.5925	3.0877	0.06283	0.1052:0.3982:0.2937:0.2029	.	732	Q8N2C7	UNC80_HUMAN	S	732	ENSP00000391088:P732S;ENSP00000272845:P732S	ENSP00000272845:P732S	P	+	1	0	UNC80	210393511	0.006000	0.16342	0.998000	0.56505	0.771000	0.43674	-0.275000	0.08525	0.401000	0.25424	-1.028000	0.02416	CCT	-	NULL		0.537	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	protein_coding		C	NM_182587	-		210685266	+1	no_errors	ENST00000439458	ensembl	human	known	74_37	missense	SNP	0.868	T
TTC3	7267	genome.wustl.edu	37	21	38495291	38495291	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:38495291G>A	ENST00000399017.2	+	13	3819	c.1072G>A	c.(1072-1074)Gca>Aca	p.A358T	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.A48T|TTC3_ENST00000355666.1_Missense_Mutation_p.A358T|TTC3_ENST00000354749.2_Missense_Mutation_p.A358T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	358					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AGGTCGAACAGCAAATAAGGA	0.348																																					Ovarian(38;194 1649 35661)												0								ENSG00000182670						134.0	125.0	128.0					21																	38495291		2203	4300	6503	TTC3	SO:0001583	missense	0			-	HGNC	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.1072G>A	21.37:g.38495291G>A	ENSP00000381981:p.Ala358Thr	Somatic	0	123	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.A358T	ENST00000399017.2	37	c.1072	CCDS13651.1	21	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260844	0.23051	.	.	ENSG00000182670	ENST00000418766;ENST00000450533;ENST00000438055;ENST00000355666;ENST00000540756;ENST00000399017;ENST00000354749	T;T;T;T;T;T;T	0.42900	1.24;1.24;1.24;3.11;0.96;3.11;3.11	4.98	-3.8	0.04307	.	1.026170	0.07784	N	0.953859	T	0.15609	0.0376	N	0.08118	0	0.09310	N	1	B;B	0.23442	0.0;0.085	B;B	0.19666	0.001;0.026	T	0.18935	-1.0321	10	0.19590	T	0.45	1.2368	0.6808	0.00875	0.2549:0.1996:0.135:0.4106	.	48;358	B4DSZ9;P53804	.;TTC3_HUMAN	T	358;358;340;358;48;358;358	ENSP00000403943:A358T;ENSP00000408456:A358T;ENSP00000391891:A340T;ENSP00000347889:A358T;ENSP00000442875:A48T;ENSP00000381981:A358T;ENSP00000346791:A358T	ENSP00000346791:A358T	A	+	1	0	TTC3	37417161	0.000000	0.05858	0.082000	0.20525	0.946000	0.59487	-1.621000	0.02044	-0.617000	0.05664	-0.171000	0.13296	GCA	-	NULL		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC3	protein_coding	OTTHUMT00000194776.1	G		-		38495291	+1	no_errors	ENST00000354749	ensembl	human	known	74_37	missense	SNP	0.014	A
CPNE6	9362	genome.wustl.edu	37	14	24542163	24542163	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24542163G>A	ENST00000397016.2	+	3	329	c.18G>A	c.(16-18)atG>atA	p.M6I	CPNE6_ENST00000216775.2_Missense_Mutation_p.M6I|CPNE6_ENST00000537691.1_Missense_Mutation_p.M61I|CPNE6_ENST00000560092.1_Intron	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	6					lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		ACCCTGAGATGGGATGGGTGC	0.642																																																	0								ENSG00000100884						35.0	31.0	33.0					14																	24542163		2203	4300	6503	CPNE6	SO:0001583	missense	0			-	HGNC	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.18G>A	14.37:g.24542163G>A	ENSP00000380211:p.Met6Ile	Somatic	0	121	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.M61I	ENST00000397016.2	37	c.183	CCDS9607.1	14	.	.	.	.	.	.	.	.	.	.	G	12.85	2.061326	0.36373	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.06068	3.35;3.39;3.39	4.58	3.62	0.41486	C2 calcium/lipid-binding domain, CaLB (1);	0.113229	0.40302	N	0.001122	T	0.05868	0.0153	L	0.33339	1.005	0.29724	N	0.838434	B;B	0.12013	0.005;0.001	B;B	0.13407	0.009;0.001	T	0.05582	-1.0876	10	0.72032	D	0.01	-25.7871	10.0979	0.42486	0.0:0.204:0.796:0.0	.	61;6	F5GXN1;O95741	.;CPNE6_HUMAN	I	61;6;6	ENSP00000440077:M61I;ENSP00000380211:M6I;ENSP00000216775:M6I	ENSP00000216775:M6I	M	+	3	0	CPNE6	23612003	.	.	0.997000	0.53966	0.993000	0.82548	.	.	2.543000	0.85770	0.563000	0.77884	ATG	-	superfamily_C2_dom		0.642	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	protein_coding	OTTHUMT00000071869.5	G		-		24542163	+1	no_errors	ENST00000537691	ensembl	human	known	74_37	missense	SNP	0.998	A
BTRC	8945	genome.wustl.edu	37	10	103190111	103190111	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:103190111C>T	ENST00000370187.3	+	2	176	c.58C>T	c.(58-60)Ccc>Tcc	p.P20S	BTRC_ENST00000408038.2_Intron|BTRC_ENST00000393441.4_Missense_Mutation_p.P5S	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	20					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GTGCTCTATGCCCAGGTCTCT	0.537																																																	0								ENSG00000166167						78.0	74.0	75.0					10																	103190111		2203	4300	6503	BTRC	SO:0001583	missense	0			-	HGNC	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.58C>T	10.37:g.103190111C>T	ENSP00000359206:p.Pro20Ser	Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.P20S	ENST00000370187.3	37	c.58	CCDS7512.1	10	.	.	.	.	.	.	.	.	.	.	C	25.0	4.592609	0.86953	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000370183	T;T	0.81078	-1.45;-1.4	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000004	D	0.83922	0.5359	N	0.19112	0.55	0.53005	D	0.999965	D;P	0.63880	0.993;0.909	D;P	0.70227	0.968;0.901	D	0.85783	0.1362	10	0.87932	D	0	-12.1557	20.2406	0.98372	0.0:1.0:0.0:0.0	.	20;20	B7Z3H4;Q9Y297	.;FBW1A_HUMAN	S	20;5;2	ENSP00000359206:P20S;ENSP00000377088:P5S	ENSP00000359202:P2S	P	+	1	0	BTRC	103180101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.631000	0.67812	2.857000	0.98124	0.650000	0.86243	CCC	-	NULL		0.537	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTRC	protein_coding	OTTHUMT00000049936.1	C	NM_033637	-		103190111	+1	no_errors	ENST00000370187	ensembl	human	known	74_37	missense	SNP	1.000	T
MXRA5	25878	genome.wustl.edu	37	X	3240025	3240025	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:3240025T>C	ENST00000217939.6	-	5	3855	c.3701A>G	c.(3700-3702)cAc>cGc	p.H1234R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1234						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTCTTCCCGTGTTTTCTCCG	0.478																																																	0								ENSG00000101825						168.0	165.0	166.0					X																	3240025		2203	4300	6503	MXRA5	SO:0001583	missense	0			-	HGNC	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.3701A>G	X.37:g.3240025T>C	ENSP00000217939:p.His1234Arg	Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H1234R	ENST00000217939.6	37	c.3701	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	t	4.883	0.164075	0.09287	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62105	0.05	3.51	-2.59	0.06209	.	0.960325	0.08489	U	0.938286	T	0.39489	0.1080	L	0.29908	0.895	0.09310	N	1	B	0.26002	0.139	B	0.19666	0.026	T	0.21586	-1.0241	10	0.30854	T	0.27	.	0.792	0.01059	0.3342:0.1032:0.1692:0.3934	.	1234	Q9NR99	MXRA5_HUMAN	R	1234	ENSP00000217939:H1234R	ENSP00000217939:H1234R	H	-	2	0	MXRA5	3250025	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.083000	0.11286	-0.174000	0.10743	-0.577000	0.04142	CAC	-	NULL		0.478	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	protein_coding	OTTHUMT00000055655.2	T	NM_015419	-		3240025	-1	no_errors	ENST00000217939	ensembl	human	known	74_37	missense	SNP	0.000	C
MYO3A	53904	genome.wustl.edu	37	10	26436477	26436477	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:26436477T>C	ENST00000265944.5	+	23	2790	c.2624T>C	c.(2623-2625)cTg>cCg	p.L875P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	875	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AACCACCCTCTGACCAAAACA	0.393																																																	0								ENSG00000095777						139.0	118.0	125.0					10																	26436477		2203	4300	6503	MYO3A	SO:0001583	missense	0			-	HGNC	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2624T>C	10.37:g.26436477T>C	ENSP00000265944:p.Leu875Pro	Somatic	0	22	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom	p.L875P	ENST00000265944.5	37	c.2624	CCDS7148.1	10	.	.	.	.	.	.	.	.	.	.	T	22.7	4.323879	0.81580	.	.	ENSG00000095777	ENST00000265944	D	0.87179	-2.22	5.39	5.39	0.77823	Myosin head, motor domain (2);	0.127012	0.53938	N	0.000042	D	0.91331	0.7266	L	0.49513	1.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91330	0.5089	10	0.48119	T	0.1	.	15.7087	0.77606	0.0:0.0:0.0:1.0	.	875	Q8NEV4	MYO3A_HUMAN	P	875	ENSP00000265944:L875P	ENSP00000265944:L875P	L	+	2	0	MYO3A	26476483	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.997000	0.88414	2.173000	0.68751	0.454000	0.30748	CTG	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.393	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	protein_coding	OTTHUMT00000047259.1	T	NM_017433	-		26436477	+1	no_errors	ENST00000265944	ensembl	human	known	74_37	missense	SNP	1.000	C
PLCE1	51196	genome.wustl.edu	37	10	96030337	96030337	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:96030337G>A	ENST00000371380.3	+	17	4719	c.4484G>A	c.(4483-4485)cGa>cAa	p.R1495Q	PLCE1_ENST00000371385.3_Missense_Mutation_p.R1187Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1495Q|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1187Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1495	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)	p.R1495Q(3)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCTCAGCAACGAAAAATGGCA	0.418																																																	3	Substitution - Missense(3)	skin(2)|ovary(1)						ENSG00000138193						123.0	115.0	118.0					10																	96030337		1926	4133	6059	PLCE1	SO:0001583	missense	0			-	HGNC		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4484G>A	10.37:g.96030337G>A	ENSP00000360431:p.Arg1495Gln	Somatic	0	112	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	39	29.09	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R1495Q	ENST00000371380.3	37	c.4484	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.613073	0.96637	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.36	5.36	0.76844	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.64402	D	0.000002	T	0.67711	0.2922	N	0.17764	0.52	0.54753	D	0.999987	D;D;D	0.89917	1.0;0.999;0.96	D;D;P	0.79784	0.993;0.988;0.882	T	0.65821	-0.6075	10	0.30854	T	0.27	.	19.0562	0.93066	0.0:0.0:1.0:0.0	.	1479;1187;1495	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	Q	1495;1495;1187;1187	ENSP00000260766:R1495Q;ENSP00000360431:R1495Q;ENSP00000360438:R1187Q;ENSP00000360426:R1187Q	ENSP00000260766:R1495Q	R	+	2	0	PLCE1	96020327	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.758000	0.98927	2.676000	0.91093	0.557000	0.71058	CGA	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom		0.418	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	protein_coding	OTTHUMT00000049469.3	G	NM_016341	-		96030337	+1	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	SNP	1.000	A
PAPPA	5069	genome.wustl.edu	37	9	118969860	118969860	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:118969860A>C	ENST00000328252.3	+	3	1973	c.1604A>C	c.(1603-1605)aAg>aCg	p.K535T	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	535	Metalloprotease.				cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCATGGGACAAGGAGGCCCTG	0.428																																																	0								ENSG00000182752						72.0	67.0	69.0					9																	118969860		2203	4300	6503	PAPPA	SO:0001583	missense	0			-	HGNC		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.1604A>C	9.37:g.118969860A>C	ENSP00000330658:p.Lys535Thr	Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.K535T	ENST00000328252.3	37	c.1604	CCDS6813.1	9	.	.	.	.	.	.	.	.	.	.	A	31	5.059935	0.93846	.	.	ENSG00000182752	ENST00000328252;ENST00000443904	T	0.02177	4.41	6.07	6.07	0.98685	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.50919	1.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.00778	-1.1570	10	0.87932	D	0	-22.9769	16.6288	0.85011	1.0:0.0:0.0:0.0	.	77;535	E7EMD3;Q13219	.;PAPP1_HUMAN	T	535;77	ENSP00000330658:K535T	ENSP00000330658:K535T	K	+	2	0	PAPPA	118009681	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.300000	0.96151	2.326000	0.78906	0.533000	0.62120	AAG	-	NULL		0.428	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA	protein_coding	OTTHUMT00000055546.1	A	NM_002581	-		118969860	+1	no_errors	ENST00000328252	ensembl	human	known	74_37	missense	SNP	1.000	C
TTN	7273	genome.wustl.edu	37	2	179484921	179484921	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:179484921G>A	ENST00000591111.1	-	198	41606				TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACAGAAATAGAGAATAAAAA	0.348																																																	0								ENSG00000237298						76.0	72.0	73.0					2																	179484921		1831	4086	5917	TTN-AS1	SO:0001627	intron_variant	0			-	HGNC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.41381+22C>T	2.37:g.179484921G>A		Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	17	22.73	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000591111.1	37	NULL		2																																																																																			-	-		0.348	TTN-019	PUTATIVE	basic	protein_coding	TTN-AS1	protein_coding	OTTHUMT00000460310.1	G	NM_133378	-		179484921	+1	no_errors	ENST00000456053	ensembl	human	known	74_37	rna	SNP	0.010	A
NAPA	8775	genome.wustl.edu	37	19	48018105	48018105	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48018105G>A	ENST00000263354.3	-	1	392	c.93C>T	c.(91-93)ctC>ctT	p.L31L	NAPA_ENST00000595227.1_Silent_p.L31L|NAPA_ENST00000593785.1_5'UTR	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	31					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		CTCACCCAAAGAGGCCAGAGA	0.652																																					Ovarian(185;1135 2042 27703 31345 42493)												0								ENSG00000105402						55.0	47.0	49.0					19																	48018105		2203	4300	6503	NAPA	SO:0001819	synonymous_variant	0			-	HGNC	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.93C>T	19.37:g.48018105G>A		Somatic	0	156	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61	A8K879|Q96IK3|Q9BVJ3	Silent	SNP	NA	NA	NA	NA	NA	NA	prints_NSF_attach	p.L31	ENST00000263354.3	37	c.93	CCDS12702.1	19																																																																																			-	NULL		0.652	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	G	NM_003827	-		48018105	-1	no_errors	ENST00000263354	ensembl	human	known	74_37	silent	SNP	0.989	A
TSTD2	158427	genome.wustl.edu	37	9	100380134	100380134	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:100380134C>T	ENST00000341170.4	-	4	890	c.508G>A	c.(508-510)Gtg>Atg	p.V170M	TSTD2_ENST00000354801.2_De_novo_Start_OutOfFrame|TSTD2_ENST00000484708.1_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	170										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TAAAGGAGCACCTCCCCTTCT	0.488																																																	0								ENSG00000136925						131.0	107.0	115.0					9																	100380134		2203	4300	6503	TSTD2	SO:0001583	missense	0			-	HGNC	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.508G>A	9.37:g.100380134C>T	ENSP00000342499:p.Val170Met	Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	35	36.36	A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom	p.V170M	ENST00000341170.4	37	c.508	CCDS6727.2	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.948813	0.73787	.	.	ENSG00000136925	ENST00000341170	T	0.49720	0.77	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.88842	2.985	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79981	-0.1574	10	0.87932	D	0	-10.7675	17.9857	0.89155	0.0:1.0:0.0:0.0	.	170	Q5T7W7	TSTD2_HUMAN	M	170	ENSP00000342499:V170M	ENSP00000342499:V170M	V	-	1	0	TSTD2	99419955	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	6.227000	0.72282	2.651000	0.90000	0.455000	0.32223	GTG	-	NULL		0.488	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSTD2	protein_coding	OTTHUMT00000053325.4	C	NM_139246	-		100380134	-1	no_errors	ENST00000341170	ensembl	human	known	74_37	missense	SNP	1.000	T
MAST2	23139	genome.wustl.edu	37	1	46500316	46500316	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:46500316G>A	ENST00000361297.2	+	29	4258	c.3975G>A	c.(3973-3975)aaG>aaA	p.K1325K	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGGCACCCAAGCTCCAACGCC	0.662																																																	0								ENSG00000086015						79.0	89.0	85.0					1																	46500316		2184	4280	6464	MAST2	SO:0001819	synonymous_variant	0			-	HGNC	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3975G>A	1.37:g.46500316G>A		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.K1325	ENST00000361297.2	37	c.3975	CCDS41326.1	1																																																																																			-	NULL		0.662	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST2	protein_coding	OTTHUMT00000021977.1	G	NM_015112	-		46500316	+1	no_errors	ENST00000361297	ensembl	human	known	74_37	silent	SNP	1.000	A
PTK7	5754	genome.wustl.edu	37	6	43113069	43113069	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:43113069T>C	ENST00000230419.4	+	16	2760	c.2539T>C	c.(2539-2541)Ttg>Ctg	p.L847L	PTK7_ENST00000345201.2_Silent_p.L807L|PTK7_ENST00000481273.1_Silent_p.L855L|PTK7_ENST00000349241.2_Silent_p.L717L|PTK7_ENST00000352931.2_Silent_p.L791L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	847	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGAGGGAGTTGGAGATGTT	0.597																																																	0								ENSG00000112655						86.0	79.0	81.0					6																	43113069		2203	4300	6503	PTK7	SO:0001819	synonymous_variant	0			-	HGNC	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2539T>C	6.37:g.43113069T>C		Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L847	ENST00000230419.4	37	c.2539	CCDS4884.1	6																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	protein_coding	OTTHUMT00000040580.2	T		-		43113069	+1	no_errors	ENST00000230419	ensembl	human	known	74_37	silent	SNP	0.930	C
ARHGAP35	2909	genome.wustl.edu	37	19	47492888	47492888	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:47492888C>T	ENST00000404338.3	+	4	3992	c.3992C>T	c.(3991-3993)cCc>cTc	p.P1331L		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1331	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTGCCTGACCCCCTGGTCCCG	0.547																																																	0								ENSG00000160007						153.0	153.0	153.0					19																	47492888		1988	4159	6147	ARHGAP35	SO:0001583	missense	0			-	HGNC	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.3992C>T	19.37:g.47492888C>T	ENSP00000385720:p.Pro1331Leu	Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	27	37.21	A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P1331L	ENST00000404338.3	37	c.3992	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	32	5.119915	0.94385	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.58358	0.34	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84770	0.0767	10	0.87932	D	0	-23.3862	18.1907	0.89806	0.0:1.0:0.0:0.0	.	1331	Q9NRY4-2	.	L	1331	ENSP00000385720:P1331L	ENSP00000324820:P1331L	P	+	2	0	ARHGAP35	52184728	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.337000	0.79256	2.604000	0.88044	0.655000	0.94253	CCC	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.547	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	protein_coding	OTTHUMT00000466652.1	C	NM_004491	-		47492888	+1	no_errors	ENST00000404338	ensembl	human	known	74_37	missense	SNP	1.000	T
SDC1	6382	genome.wustl.edu	37	2	20402441	20402441	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:20402441G>A	ENST00000254351.4	-	0	1263				SDC1_ENST00000381150.1_3'UTR|SDC1_ENST00000403076.1_Intron|SDC1_ENST00000482879.1_5'UTR	NM_002997.4	NP_002988	P18827	SDC1_HUMAN	syndecan 1						canonical Wnt signaling pathway (GO:0060070)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|myoblast development (GO:0048627)|odontogenesis (GO:0042476)|phototransduction, visible light (GO:0007603)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to toxic substance (GO:0009636)|retinoid metabolic process (GO:0001523)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|striated muscle cell development (GO:0055002)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTGGTGGCAGGGGAGGCCAGG	0.657																																																	0								ENSG00000115884																																			SDC1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ551176	CCDS1697.1	2p24.1	2008-02-05			ENSG00000115884	ENSG00000115884		"""CD molecules"", ""Proteoglycans / Cell Surface : Syndecans"""	10658	protein-coding gene	gene with protein product	"""syndecan proteoglycan 1"""	186355		SDC			Standard	XM_005262621		Approved	CD138, syndecan, SYND1	uc002rdo.1	P18827	OTTHUMG00000090751	ENST00000254351.4:c.*86C>T	2.37:g.20402441G>A		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	D6W523|Q53QV0|Q546D3|Q96HB7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000254351.4	37	NULL	CCDS1697.1	2																																																																																			-	-		0.657	SDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDC1	protein_coding	OTTHUMT00000207495.1	G	NM_001006946	-		20402441	-1	no_errors	ENST00000482879	ensembl	human	known	74_37	rna	SNP	0.202	A
XIST	7503	genome.wustl.edu	37	X	73064051	73064051	+	lincRNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:73064051G>A	ENST00000429829.1	-	0	8537					NR_001564.2				X inactive specific transcript (non-protein coding)																		ACTGCAAATGGAGGGTGAGAA	0.408																																																	0								ENSG00000229807						261.0	242.0	248.0					X																	73064051		876	1991	2867	XIST			0			-	HGNC	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064051G>A		Somatic	0	25	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	6	60.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			-	-		0.408	XIST-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000057239.1	G	NR_001564	-		73064051	-1	no_errors	ENST00000429829	ensembl	human	known	74_37	rna	SNP	0.000	A
AC007364.1	0	genome.wustl.edu	37	2	150714896	150714896	+	lincRNA	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:150714896C>A	ENST00000295052.3	-	0	370																											GAATGTTAAGCAAGAGAGAGA	0.413																																																	0								ENSG00000162947																																			AC007364.1			0			-	Clone_based_vega_gene																													2.37:g.150714896C>A		Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000295052.3	37	NULL		2																																																																																			-	-		0.413	AC007364.1-001	KNOWN	basic	lincRNA	ENSG00000162947	lincRNA	OTTHUMT00000332309.2	C		-		150714896	-1	no_errors	ENST00000295052	ensembl	human	known	74_37	rna	SNP	0.000	A
ILKAP	80895	genome.wustl.edu	37	2	239098570	239098570	+	Silent	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:239098570C>A	ENST00000254654.3	-	4	397	c.222G>T	c.(220-222)ggG>ggT	p.G74G		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	74					protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGCTCCTTTCCCTTCAGTCT	0.393																																																	0								ENSG00000132323						118.0	115.0	116.0					2																	239098570		2203	4300	6503	ILKAP	SO:0001819	synonymous_variant	0			-	HGNC	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.222G>T	2.37:g.239098570C>A		Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	B3KM39	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.G74	ENST00000254654.3	37	c.222	CCDS2526.1	2																																																																																			-	NULL		0.393	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILKAP	protein_coding	OTTHUMT00000257163.2	C	NM_030768	-		239098570	-1	no_errors	ENST00000254654	ensembl	human	known	74_37	silent	SNP	1.000	A
DOCK8	81704	genome.wustl.edu	37	9	386421	386421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:386421delA	ENST00000453981.1	+	23	2981	c.2869delA	c.(2869-2871)aaafs	p.K958fs	DOCK8_ENST00000382329.1_Frame_Shift_Del_p.K425fs|DOCK8_ENST00000382331.1_Frame_Shift_Del_p.K260fs|DOCK8_ENST00000432829.2_Frame_Shift_Del_p.K890fs|DOCK8_ENST00000469391.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	958					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GCCAGCCAGCAAAAAGGTACT	0.493											OREG0019067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000107099						108.0	94.0	98.0					9																	386421		2203	4300	6503	DOCK8	SO:0001589	frameshift_variant	0				HGNC	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.2869delA	9.37:g.386421delA	ENSP00000408464:p.Lys958fs	Somatic	0	37	0.00	587	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.K958fs	ENST00000453981.1	37	c.2869	CCDS6440.2	9																																																																																			-	NULL		0.493	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	protein_coding	OTTHUMT00000171792.5	A	XM_036307			386421	+1	no_errors	ENST00000453981	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
CLCN5	1184	genome.wustl.edu	37	X	49853357	49853357	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:49853357C>T	ENST00000307367.2	+	9	1641	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	CLCN5_ENST00000376108.3_Silent_p.I450I|CLCN5_ENST00000376091.3_Silent_p.I520I|CLCN5_ENST00000376088.3_Silent_p.I520I			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	450					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTTTGCAGATCCCTTCTGGCC	0.488																																																	0								ENSG00000171365						192.0	186.0	188.0					X																	49853357		2203	4300	6503	CLCN5	SO:0001819	synonymous_variant	0			-	HGNC	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1350C>T	X.37:g.49853357C>T		Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.I520	ENST00000307367.2	37	c.1560	CCDS14328.1	X																																																																																			-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated		0.488	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	protein_coding	OTTHUMT00000056544.1	C		-		49853357	+1	no_errors	ENST00000376088	ensembl	human	known	74_37	silent	SNP	0.989	T
MSH5	4439	genome.wustl.edu	37	6	31721192	31721192	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:31721192C>T	ENST00000375755.3	+	11	1213	c.927C>T	c.(925-927)ctC>ctT	p.L309L	MSH5_ENST00000534153.4_Silent_p.L326L|MSH5_ENST00000375750.3_Silent_p.L309L|MSH5_ENST00000375703.3_Silent_p.L309L|MSH5_ENST00000375742.3_Silent_p.L326L|MSH5-SAPCD1_ENST00000493662.2_Silent_p.L326L|MSH5_ENST00000431848.2_Silent_p.L8L|MSH5_ENST00000375740.3_Silent_p.L326L	NM_002441.4	NP_002432.1	O43196	MSH5_HUMAN	mutS homolog 5	309					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|ovary(2)|skin(2)	5						TGCATCGGCTCCTGGGTCACA	0.592								Direct reversal of damage;Mismatch excision repair (MMR)																																									0								ENSG00000204410						69.0	66.0	67.0					6																	31721192		2203	4300	6503	MSH5	SO:0001819	synonymous_variant	0			-	HGNC	AF070071	CCDS4720.1, CCDS34409.1, CCDS34410.1, CCDS34409.2	6p21.3	2013-09-12	2013-09-12		ENSG00000204410	ENSG00000204410			7328	protein-coding gene	gene with protein product		603382	"""mutS (E. coli) homolog 5"", ""mutS homolog 5 (E. coli)"""			9740671, 9787078, 17977839	Standard	NM_002441		Approved		uc011hbg.2	O43196	OTTHUMG00000167551	ENST00000375755.3:c.927C>T	6.37:g.31721192C>T		Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	35	40.68	B0V033|B0V034|O60586|Q5BLU9|Q5SSR1|Q8IW44|Q9BQC7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.L326	ENST00000375755.3	37	c.978	CCDS4720.1	6																																																																																			-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.592	MSH5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MSH5	protein_coding	OTTHUMT00000076243.4	C		-		31721192	+1	no_errors	ENST00000375742	ensembl	human	known	74_37	silent	SNP	0.009	T
GPR112	139378	genome.wustl.edu	37	X	135427472	135427472	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:135427472C>T	ENST00000394143.1	+	6	1898	c.1607C>T	c.(1606-1608)tCt>tTt	p.S536F	GPR112_ENST00000287534.4_Missense_Mutation_p.S473F|GPR112_ENST00000412101.1_Missense_Mutation_p.S331F|GPR112_ENST00000394141.1_Missense_Mutation_p.S331F|GPR112_ENST00000370652.1_Missense_Mutation_p.S536F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	536					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGATGTCTCTTTACCCAGA	0.433																																																	0								ENSG00000156920						60.0	55.0	56.0					X																	135427472		2202	4300	6502	GPR112	SO:0001583	missense	0			-	HGNC	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.1607C>T	X.37:g.135427472C>T	ENSP00000377699:p.Ser536Phe	Somatic	0	35	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	5	68.75	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S536F	ENST00000394143.1	37	c.1607	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	c	7.706	0.694214	0.15039	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.29655	1.6;1.6;1.56;1.71;1.56	3.42	2.52	0.30459	.	.	.	.	.	T	0.15869	0.0382	N	0.17082	0.46	0.09310	N	1	B;B;B	0.31227	0.314;0.053;0.014	B;B;B	0.35510	0.204;0.025;0.007	T	0.29488	-1.0010	9	0.02654	T	1	.	7.0052	0.24831	0.0:0.8552:0.0:0.1448	.	473;331;536	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	F	536;536;331;473;331	ENSP00000377699:S536F;ENSP00000359686:S536F;ENSP00000416526:S331F;ENSP00000287534:S473F;ENSP00000377697:S331F	ENSP00000287534:S473F	S	+	2	0	GPR112	135255138	0.624000	0.27102	0.003000	0.11579	0.122000	0.20287	0.599000	0.24089	0.546000	0.28920	0.411000	0.27672	TCT	-	NULL		0.433	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	C		-		135427472	+1	no_errors	ENST00000370652	ensembl	human	known	74_37	missense	SNP	0.003	T
NUDT18	79873	genome.wustl.edu	37	8	21965314	21965314	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:21965314G>T	ENST00000309188.6	-	5	587	c.469C>A	c.(469-471)Cat>Aat	p.H157N	NUDT18_ENST00000522405.1_Missense_Mutation_p.H80N|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	157	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				dADP catabolic process (GO:0046057)|dGDP catabolic process (GO:0046067)|GDP catabolic process (GO:0046712)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	8-hydroxy-dADP phosphatase activity (GO:0044717)|8-oxo-dGDP phosphatase activity (GO:0044715)|8-oxo-GDP phosphatase activity (GO:0044716)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		AGGATGTCATGGGCTCGCAGC	0.622																																																	0								ENSG00000173566						56.0	65.0	62.0					8																	21965314		2140	4246	6386	NUDT18	SO:0001583	missense	0			-	HGNC		CCDS75706.1	8p21.3	2012-07-31				ENSG00000275074		"""Nudix motif containing"""	26194	protein-coding gene	gene with protein product	"""mutT human homolog 3"""	615791				22556419	Standard	NM_024815		Approved	FLJ22494, MTH3	uc003xaq.1	Q6ZVK8		ENST00000309188.6:c.469C>A	8.37:g.21965314G>T	ENSP00000307852:p.His157Asn	Somatic	0	27	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	Q8IZ75|Q9H687	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase	p.H157N	ENST00000309188.6	37	c.469		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.08|12.08	1.831696|1.831696	0.32421|0.32421	.|.	.|.	ENSG00000173566|ENSG00000173566	ENST00000522405;ENST00000309188|ENST00000522379	T;T|.	0.39997|.	1.05;3.11|.	5.37|5.37	5.37|5.37	0.77165|0.77165	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);|.	0.560586|.	0.19051|.	N|.	0.124046|.	T|T	0.37100|0.37100	0.0991|0.0991	N|N	0.04787|0.04787	-0.16|-0.16	0.43199|0.43199	D|D	0.995047|0.995047	B|.	0.20459|.	0.045|.	B|.	0.29716|.	0.106|.	T|T	0.29243|0.29243	-1.0018|-1.0018	10|5	0.21540|.	T|.	0.41|.	-0.5675|-0.5675	14.623|14.623	0.68599|0.68599	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	157|.	Q6ZVK8|.	NUD18_HUMAN|.	N|Q	80;157|192	ENSP00000430539:H80N;ENSP00000307852:H157N|.	ENSP00000307852:H157N|.	H|P	-|-	1|2	0|0	NUDT18|NUDT18	22021259|22021259	0.968000|0.968000	0.33430|0.33430	0.268000|0.268000	0.24571|0.24571	0.433000|0.433000	0.31745|0.31745	4.018000|4.018000	0.57174|0.57174	2.505000|2.505000	0.84491|0.84491	0.655000|0.655000	0.94253|0.94253	CAT|CCA	-	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like		0.622	NUDT18-201	KNOWN	basic|appris_principal	protein_coding	NUDT18	protein_coding		G	NM_024815	-		21965314	-1	no_errors	ENST00000309188	ensembl	human	known	74_37	missense	SNP	0.978	T
EPRS	2058	genome.wustl.edu	37	1	220191843	220191843	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:220191843G>A	ENST00000366923.3	-	12	1711	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	481	Glutamate--tRNA ligase.				cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	GACTGAACGTGAGGAGCCCTA	0.353																																																	0								ENSG00000136628						93.0	86.0	88.0					1																	220191843		2203	4300	6503	EPRS	SO:0001583	missense	0			-	HGNC	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.1442C>T	1.37:g.220191843G>A	ENSP00000355890:p.Ser481Leu	Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_WHEP-TRS,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Pro-tRNA_ligase_II_C,pfam_Anticodon-bd,superfamily_Ribosomal_L25/Gln-tRNA_synth,superfamily_Anticodon-bd,superfamily_Pro-tRNA_synth_II,superfamily_S15_NS1_RNA-bd,superfamily_Glutathione-S-Trfase_C-like,smart_Pro-tRNA_ligase_II_C,prints_Glu/Gln-tRNA-synth,prints_Pro-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_Pro-tRNA-ligase_IIa_arc-type,tigrfam_Glu-tRNA-synth_arc/euk	p.S481L	ENST00000366923.3	37	c.1442	CCDS31027.1	1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764476	0.89932	.	.	ENSG00000136628	ENST00000366923;ENST00000536921;ENST00000435048	T	0.26957	1.7	5.92	5.92	0.95590	Glutamyl/glutaminyl-tRNA synthetase, class Ib, alpha-bundle domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69531	0.3121	H	0.97940	4.11	0.80722	D	1	D;D;D	0.76494	0.991;0.999;0.998	D;D;D	0.74674	0.934;0.984;0.94	T	0.80997	-0.1132	10	0.87932	D	0	-17.951	20.3151	0.98650	0.0:0.0:1.0:0.0	.	505;481;481	E7EMN0;Q3KQZ8;P07814	.;.;SYEP_HUMAN	L	481;481;505	ENSP00000355890:S481L	ENSP00000355890:S481L	S	-	2	0	EPRS	218258466	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	9.338000	0.96553	2.809000	0.96659	0.467000	0.42956	TCA	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_arc/euk		0.353	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPRS	protein_coding	OTTHUMT00000091133.2	G	NM_004446	-		220191843	-1	no_errors	ENST00000366923	ensembl	human	known	74_37	missense	SNP	1.000	A
CYP2J2	1573	genome.wustl.edu	37	1	60392370	60392370	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:60392370G>A	ENST00000371204.3	-	1	92	c.49C>T	c.(49-51)Cat>Tat	p.H17Y		NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	17					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	GTCCGAGGATGGACCACTGCC	0.662																																																	0								ENSG00000134716						21.0	27.0	25.0					1																	60392370		2201	4297	6498	CYP2J2	SO:0001583	missense	0			-	HGNC	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.49C>T	1.37:g.60392370G>A	ENSP00000360247:p.His17Tyr	Somatic	0	95	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	59	14.49	B2RD33|Q8TF13	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_CYP2J-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.H17Y	ENST00000371204.3	37	c.49	CCDS613.1	1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868456	0.32977	.	.	ENSG00000134716	ENST00000371204	T	0.69175	-0.38	5.31	2.22	0.28083	.	0.554682	0.19546	N	0.111700	T	0.37404	0.1002	N	0.08118	0	0.09310	N	1	P	0.38395	0.629	B	0.33620	0.167	T	0.15723	-1.0427	10	0.25106	T	0.35	.	5.9524	0.19255	0.0888:0.0:0.5749:0.3362	.	17	P51589	CP2J2_HUMAN	Y	17	ENSP00000360247:H17Y	ENSP00000360247:H17Y	H	-	1	0	CYP2J2	60164958	0.041000	0.20044	0.003000	0.11579	0.050000	0.14768	1.650000	0.37292	0.740000	0.32651	-0.268000	0.10319	CAT	-	prints_Cyt_P450_E_grp-I_CYP2J-like		0.662	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	protein_coding	OTTHUMT00000024940.1	G	NM_000775	-		60392370	-1	no_errors	ENST00000371204	ensembl	human	known	74_37	missense	SNP	0.001	A
TLR5	7100	genome.wustl.edu	37	1	223285782	223285782	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:223285782G>A	ENST00000540964.1	-	4	1053	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	TLR5_ENST00000342210.6_Missense_Mutation_p.L198F			O60602	TLR5_HUMAN	toll-like receptor 5	198					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAAAGGAGAGCGTTTTCCCT	0.423																																																	0								ENSG00000187554						62.0	63.0	62.0					1																	223285782		2203	4300	6503	TLR5	SO:0001583	missense	0			-	HGNC		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.592C>T	1.37:g.223285782G>A	ENSP00000440643:p.Leu198Phe	Somatic	0	33	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	18	25.00	B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L198F	ENST00000540964.1	37	c.592	CCDS31033.1	1	.	.	.	.	.	.	.	.	.	.	G	0.615	-0.823526	0.02755	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	D;D;D	0.94537	-3.45;-3.45;-3.45	4.89	1.79	0.24919	.	0.165686	0.53938	N	0.000053	D	0.85102	0.5620	N	0.17922	0.545	0.20307	N	0.999913	B	0.02656	0.0	B	0.09377	0.004	T	0.68379	-0.5424	10	0.07813	T	0.8	.	7.1059	0.25362	0.5256:0.0:0.4744:0.0	.	198	O60602	TLR5_HUMAN	F	198	ENSP00000440643:L198F;ENSP00000355846:L198F;ENSP00000340089:L198F	ENSP00000340089:L198F	L	-	1	0	TLR5	221352405	0.459000	0.25768	0.030000	0.17652	0.021000	0.10359	0.784000	0.26816	0.500000	0.27991	0.655000	0.94253	CTC	-	NULL		0.423	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR5	protein_coding		G	NM_003268	-		223285782	-1	no_errors	ENST00000342210	ensembl	human	known	74_37	missense	SNP	0.254	A
VPS53	55275	genome.wustl.edu	37	17	455141	455141	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:455141A>G	ENST00000571805.1	-	17	1973	c.1837T>C	c.(1837-1839)Tgt>Cgt	p.C613R	VPS53_ENST00000437048.2_Missense_Mutation_p.C613R|RP5-1029F21.2_ENST00000574008.1_RNA|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000446250.2_Missense_Mutation_p.C415R|VPS53_ENST00000401468.3_Missense_Mutation_p.C336R|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000291074.5_Missense_Mutation_p.C584R			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	613					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCAGGATCACAGGCAGCATCC	0.522																																																	0								ENSG00000141252						83.0	61.0	68.0					17																	455141		2203	4300	6503	VPS53	SO:0001583	missense	0			-	HGNC		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1837T>C	17.37:g.455141A>G	ENSP00000459312:p.Cys613Arg	Somatic	0	26	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Vps53_N,pfam_Vacuolar_sorting-assoc_54	p.C613R	ENST00000571805.1	37	c.1837		17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.4|21.4	4.138898|4.138898	0.77775|0.77775	.|.	.|.	ENSG00000141252|ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468|ENST00000389040	T;T;T;T|T	0.50813|0.34275	1.32;1.36;1.36;0.73|1.37	5.62|5.62	4.52|4.52	0.55395|0.55395	.|.	0.148341|.	0.64402|.	D|.	0.000003|.	T|T	0.56352|0.56352	0.1979|0.1979	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;1.0;0.999|.	D;D;D;D;D|.	0.87578|.	0.994;0.998;0.997;0.996;0.993|.	T|T	0.61377|0.61377	-0.7075|-0.7075	10|7	0.87932|0.87932	D|D	0|0	-11.2855|-11.2855	11.5104|11.5104	0.50490|0.50490	0.8655:0.0:0.0:0.1344|0.8655:0.0:0.0:0.1344	.|.	336;613;415;613;584|.	E7EVT8;Q5VIR6-4;G3V0H8;Q5VIR6;Q5VIR6-2|.	.;.;.;VPS53_HUMAN;.|.	R|P	613;415;584;336|547	ENSP00000401435:C613R;ENSP00000394386:C415R;ENSP00000291074:C584R;ENSP00000384294:C336R|ENSP00000373692:L547P	ENSP00000291074:C584R|ENSP00000373692:L547P	C|L	-|-	1|2	0|0	VPS53|VPS53	401891|401891	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.963000|0.963000	0.63663|0.63663	8.910000|8.910000	0.92685|0.92685	1.031000|1.031000	0.39867|0.39867	0.533000|0.533000	0.62120|0.62120	TGT|CTG	-	NULL		0.522	VPS53-006	KNOWN	basic	protein_coding	VPS53	protein_coding	OTTHUMT00000436940.2	A	NM_018289	-		455141	-1	no_errors	ENST00000437048	ensembl	human	known	74_37	missense	SNP	1.000	G
SIPA1L3	23094	genome.wustl.edu	37	19	38682899	38682899	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:38682899G>A	ENST00000222345.6	+	17	5054	c.4545G>A	c.(4543-4545)aaG>aaA	p.K1515K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1515					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATGACCTGAAGAAACTCATCA	0.582																																																	0								ENSG00000105738						85.0	73.0	77.0					19																	38682899		2203	4300	6503	SIPA1L3	SO:0001819	synonymous_variant	0			-	HGNC	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.4545G>A	19.37:g.38682899G>A		Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	Q2TV87	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3401,pfam_Rap_GAP_dom,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.K1515	ENST00000222345.6	37	c.4545	CCDS33007.1	19																																																																																			-	pfam_DUF3401		0.582	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	protein_coding	OTTHUMT00000156294.2	G	XM_032278	-		38682899	+1	no_errors	ENST00000222345	ensembl	human	known	74_37	silent	SNP	1.000	A
FER1L6	654463	genome.wustl.edu	37	8	124968283	124968283	+	Silent	SNP	G	G	A	rs374438333		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:124968283G>A	ENST00000522917.1	+	2	251	c.45G>A	c.(43-45)aaG>aaA	p.K15K	FER1L6_ENST00000399018.1_Silent_p.K15K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	15						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGCAGAGAAGGGGTTAATCC	0.478																																																	0								ENSG00000214814						55.0	56.0	56.0					8																	124968283		1931	4131	6062	FER1L6	SO:0001819	synonymous_variant	0			-	HGNC	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.45G>A	8.37:g.124968283G>A		Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom	p.K15	ENST00000522917.1	37	c.45	CCDS43767.1	8																																																																																			-	NULL		0.478	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	protein_coding	OTTHUMT00000381400.1	G	NM_001039112	-		124968283	+1	no_errors	ENST00000399018	ensembl	human	known	74_37	silent	SNP	0.999	A
COL6A3	1293	genome.wustl.edu	37	2	238280873	238280873	+	Missense_Mutation	SNP	C	C	G	rs376725775		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:238280873C>G	ENST00000295550.4	-	9	4239	c.3787G>C	c.(3787-3789)Gac>Cac	p.D1263H	COL6A3_ENST00000346358.4_Missense_Mutation_p.D1063H|COL6A3_ENST00000353578.4_Missense_Mutation_p.D1057H|COL6A3_ENST00000392004.3_Missense_Mutation_p.D1057H|COL6A3_ENST00000409809.1_Missense_Mutation_p.D1057H|COL6A3_ENST00000472056.1_Missense_Mutation_p.D656H|COL6A3_ENST00000347401.3_Missense_Mutation_p.D1062H|COL6A3_ENST00000392003.2_Missense_Mutation_p.D856H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1263	Nonhelical region.|VWFA 7. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGCCCACGTCCAGGTAGTCA	0.577																																																	0								ENSG00000163359						50.0	47.0	48.0					2																	238280873		2203	4300	6503	COL6A3	SO:0001583	missense	0			-	HGNC	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.3787G>C	2.37:g.238280873C>G	ENSP00000295550:p.Asp1263His	Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1263H	ENST00000295550.4	37	c.3787	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683382	0.68157	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.73	5.73	0.89815	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000024	D	0.92622	0.7656	M	0.85041	2.73	0.54753	D	0.999988	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.83275	0.996;0.995;0.993;0.996;0.969	D	0.92853	0.6299	10	0.56958	D	0.05	.	14.1021	0.65062	0.0:0.9283:0.0:0.0717	.	656;856;1057;1057;1263	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	H	1263;1062;1057;656;1057;1063;1057;856	ENSP00000295550:D1263H;ENSP00000315609:D1062H;ENSP00000315873:D1057H;ENSP00000418285:D656H;ENSP00000386844:D1057H;ENSP00000295546:D1063H;ENSP00000375861:D1057H;ENSP00000375860:D856H	ENSP00000295550:D1263H	D	-	1	0	COL6A3	237945612	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	3.030000	0.49720	2.708000	0.92522	0.655000	0.94253	GAC	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.577	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	protein_coding	OTTHUMT00000315790.2	C	NM_004369	-		238280873	-1	no_errors	ENST00000295550	ensembl	human	known	74_37	missense	SNP	1.000	G
YARS2	51067	genome.wustl.edu	37	12	32908628	32908628	+	Missense_Mutation	SNP	G	G	A	rs555093151		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:32908628G>A	ENST00000324868.8	-	1	208	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	61					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AGCTCTGGGAGCTCTATTTTC	0.592											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000139131						114.0	123.0	120.0					12																	32908628		2203	4300	6503	YARS2	SO:0001583	missense	0			-	HGNC	AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.181C>T	12.37:g.32908628G>A	ENSP00000320658:p.Leu61Phe	Somatic	0	79	0.00	836	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	35	20.45	D3DUW8|Q9H817	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.L61F	ENST00000324868.8	37	c.181	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670207	0.88348	.	.	ENSG00000139131	ENST00000324868	T	0.73681	-0.77	5.1	5.1	0.69264	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.124247	0.56097	D	0.000031	T	0.79667	0.4485	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	P	0.62885	0.908	T	0.81897	-0.0722	10	0.87932	D	0	-11.7606	18.3808	0.90451	0.0:0.0:1.0:0.0	.	61	Q9Y2Z4	SYYM_HUMAN	F	61	ENSP00000320658:L61F	ENSP00000320658:L61F	L	-	1	0	YARS2	32799895	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.667000	0.68067	2.673000	0.90976	0.650000	0.86243	CTC	-	NULL		0.592	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	protein_coding	OTTHUMT00000404153.1	G	NM_015936	-		32908628	-1	no_errors	ENST00000324868	ensembl	human	known	74_37	missense	SNP	1.000	A
TONSL	4796	genome.wustl.edu	37	8	145659099	145659099	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:145659099C>T	ENST00000409379.3	-	22	3460	c.3431G>A	c.(3430-3432)gGc>gAc	p.G1144D	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1144					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CTGGCCACAGCCGTCCCCCAG	0.662																																																	0								ENSG00000160949						31.0	37.0	35.0					8																	145659099		2202	4299	6501	TONSL	SO:0001583	missense	0			-	HGNC		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3431G>A	8.37:g.145659099C>T	ENSP00000386239:p.Gly1144Asp	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.G1144D	ENST00000409379.3	37	c.3431	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	c	12.13	1.846780	0.32606	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.60171	0.21	5.2	4.33	0.51752	.	0.239273	0.41712	D	0.000825	T	0.51483	0.1677	L	0.46614	1.455	0.58432	D	0.999994	P	0.52577	0.954	B	0.41412	0.356	T	0.57757	-0.7756	10	0.72032	D	0.01	-20.6845	13.6599	0.62361	0.0:0.8436:0.1564:0.0	.	1144	Q96HA7	TONSL_HUMAN	D	1144;1143	ENSP00000386239:G1144D	ENSP00000386239:G1144D	G	-	2	0	TONSL	145629907	0.168000	0.22989	0.596000	0.28811	0.087000	0.18053	1.378000	0.34328	1.195000	0.43115	-0.467000	0.05162	GGC	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.662	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	protein_coding	OTTHUMT00000329668.2	C	NM_013432	-		145659099	-1	no_errors	ENST00000409379	ensembl	human	known	74_37	missense	SNP	0.998	T
SCN8A	6334	genome.wustl.edu	37	12	52078031	52078031	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:52078031C>T	ENST00000354534.6	+	3	528	c.350C>T	c.(349-351)cCt>cTt	p.P117L	SCN8A_ENST00000545061.1_Missense_Mutation_p.P117L|SCN8A_ENST00000550891.1_Missense_Mutation_p.P117L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	117					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	ATTTTAAGTCCTTTTAACCTG	0.368																																																	0								ENSG00000196876						85.0	86.0	86.0					12																	52078031		1852	4093	5945	SCN8A	SO:0001583	missense	0			-	HGNC	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.350C>T	12.37:g.52078031C>T	ENSP00000346534:p.Pro117Leu	Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.P117L	ENST00000354534.6	37	c.350	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803580	0.70682	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.96685	-4.08;-4.05;-4.09;-3.95	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	D	0.98074	0.9365	M	0.93550	3.43	0.80722	D	1	D	0.60575	0.988	P	0.53313	0.723	D	0.99278	1.0895	10	0.87932	D	0	.	18.5569	0.91088	0.0:1.0:0.0:0.0	.	117	Q9UQD0	SCN8A_HUMAN	L	117;117;117;117;30	ENSP00000448415:P117L;ENSP00000346534:P117L;ENSP00000440360:P117L;ENSP00000347255:P117L	ENSP00000346534:P117L	P	+	2	0	SCN8A	50364298	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.616000	0.83018	2.696000	0.92011	0.655000	0.94253	CCT	-	NULL		0.368	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	protein_coding	OTTHUMT00000404372.3	C	NM_014191	-		52078031	+1	no_errors	ENST00000354534	ensembl	human	known	74_37	missense	SNP	1.000	T
TPRX1	284355	genome.wustl.edu	37	19	48305231	48305231	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48305231T>C	ENST00000322175.3	-	2	1192	c.1037A>G	c.(1036-1038)gAc>gGc	p.D346G	TPRX1_ENST00000543508.1_Missense_Mutation_p.D336G|TPRX1_ENST00000535759.1_Missense_Mutation_p.D443G	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	346						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		TAACTGGGTGTCTGGCAAGAA	0.602																																					Esophageal Squamous(123;175 2281 3051 32395)												0								ENSG00000178928						85.0	86.0	86.0					19																	48305231		2203	4300	6503	TPRX1	SO:0001583	missense	0			-	HGNC		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1037A>G	19.37:g.48305231T>C	ENSP00000323455:p.Asp346Gly	Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	31	16.22	A5D8Y3|B2RPL5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.D443G	ENST00000322175.3	37	c.1328	CCDS33066.1	19	.	.	.	.	.	.	.	.	.	.	t	11.08	1.533004	0.27387	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D	0.94092	-2.18;-3.35	1.27	1.27	0.21489	.	.	.	.	.	D	0.88636	0.6490	N	0.08118	0	0.09310	N	1	D	0.64830	0.994	P	0.57324	0.818	T	0.79699	-0.1694	9	0.66056	D	0.02	.	4.71	0.12868	0.0:0.0:0.0:1.0	.	346	Q8N7U7	TPRX1_HUMAN	G	346;443;336	ENSP00000323455:D346G;ENSP00000438832:D443G	ENSP00000323455:D346G	D	-	2	0	TPRX1	52997043	0.000000	0.05858	0.005000	0.12908	0.007000	0.05969	-0.111000	0.10807	0.848000	0.35191	0.402000	0.26972	GAC	-	NULL		0.602	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	protein_coding	OTTHUMT00000409868.1	T	NM_198479	-		48305231	-1	no_errors	ENST00000535759	ensembl	human	known	74_37	missense	SNP	0.006	C
SMG7	9887	genome.wustl.edu	37	1	183519982	183519982	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:183519982C>T	ENST00000347615.2	+	20	3199	c.3080C>T	c.(3079-3081)tCc>tTc	p.S1027F	SMG7_ENST00000508461.1_Missense_Mutation_p.S1035F|SMG7_ENST00000456731.2_Missense_Mutation_p.S939F|SMG7_ENST00000367537.3_Missense_Mutation_p.S1060F|SMG7_ENST00000515829.2_Missense_Mutation_p.S981F|SMG7_ENST00000507469.1_Missense_Mutation_p.S1031F	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1027					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GTTCCATTCTCCAATTTTGGA	0.478																																																	0								ENSG00000116698						114.0	108.0	110.0					1																	183519982		2203	4300	6503	SMG7	SO:0001583	missense	0			-	HGNC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3080C>T	1.37:g.183519982C>T	ENSP00000340766:p.Ser1027Phe	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EST1	p.S1031F	ENST00000347615.2	37	c.3092	CCDS1355.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735077	0.89482	.	.	ENSG00000116698	ENST00000456731;ENST00000367537;ENST00000508461;ENST00000347615;ENST00000507469;ENST00000515829	T;T;T;T;T;T	0.32753	1.47;1.49;1.45;1.52;1.44;1.45	5.45	5.45	0.79879	.	0.053457	0.85682	D	0.000000	T	0.46852	0.1414	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D	0.71674	0.998;0.998;0.997;0.998;0.998	D;D;D;D;D	0.80764	0.991;0.991;0.994;0.991;0.991	T	0.45249	-0.9274	10	0.72032	D	0.01	-12.6602	19.6597	0.95861	0.0:1.0:0.0:0.0	.	1035;939;981;1027;1031	E9PCI0;E9PCE5;Q92540-2;Q92540;E9PEH2	.;.;.;SMG7_HUMAN;.	F	939;1060;1035;1027;1031;981	ENSP00000407629:S939F;ENSP00000356507:S1060F;ENSP00000426915:S1035F;ENSP00000340766:S1027F;ENSP00000425133:S1031F;ENSP00000421358:S981F	ENSP00000340766:S1027F	S	+	2	0	SMG7	181786605	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.071000	0.76770	2.708000	0.92522	0.650000	0.86243	TCC	-	NULL		0.478	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	C	NM_014837	-		183519982	+1	no_errors	ENST00000507469	ensembl	human	known	74_37	missense	SNP	1.000	T
DRD2	1813	genome.wustl.edu	37	11	113283521	113283521	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:113283521G>A	ENST00000362072.3	-	7	1239	c.895C>T	c.(895-897)Cca>Tca	p.P299S	RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000346454.3_Missense_Mutation_p.P270S|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.P299S|DRD2_ENST00000355319.2_Missense_Mutation_p.P301S|DRD2_ENST00000544518.1_Missense_Mutation_p.P298S|DRD2_ENST00000538967.1_Missense_Mutation_p.P301S	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	299	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGCTGGGTGGGATGGGGCTG	0.662																																																	0								ENSG00000149295						63.0	59.0	60.0					11																	113283521		2201	4296	6497	DRD2	SO:0001583	missense	0			-	HGNC	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.895C>T	11.37:g.113283521G>A	ENSP00000354859:p.Pro299Ser	Somatic	0	137	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	42	33.33	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt	p.P301S	ENST00000362072.3	37	c.901	CCDS8361.1	11	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752332	0.31046	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72394	-0.64;-0.62;-0.62;-0.65;-0.62;-0.64	5.73	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.205863	0.52532	D	0.000071	T	0.52645	0.1747	L	0.31752	0.955	0.34217	D	0.674947	B;B;B	0.13145	0.007;0.007;0.003	B;B;B	0.14023	0.01;0.003;0.006	T	0.53251	-0.8465	10	0.09590	T	0.72	.	9.4873	0.38937	0.0795:0.4219:0.4986:0.0	.	298;270;299	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	S	301;270;299;298;299;301	ENSP00000347474:P301S;ENSP00000278597:P270S;ENSP00000354859:P299S;ENSP00000441068:P298S;ENSP00000442172:P299S;ENSP00000438215:P301S	ENSP00000278597:P270S	P	-	1	0	DRD2	112788731	0.939000	0.31865	0.971000	0.41717	0.981000	0.71138	0.939000	0.28978	1.430000	0.47334	0.655000	0.94253	CCA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.662	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DRD2	protein_coding	OTTHUMT00000395834.1	G	NM_000795	-		113283521	-1	no_errors	ENST00000355319	ensembl	human	known	74_37	missense	SNP	0.848	A
MUC16	94025	genome.wustl.edu	37	19	9066683	9066683	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:9066683G>T	ENST00000397910.4	-	3	20966	c.20763C>A	c.(20761-20763)tcC>tcA	p.S6921S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6923	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCCCATGGTGGAGGTGGTAT	0.463																																																	0								ENSG00000181143						303.0	282.0	289.0					19																	9066683		2046	4204	6250	MUC16	SO:0001819	synonymous_variant	0			-	HGNC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20763C>A	19.37:g.9066683G>T		Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	Q6ZQW5|Q96RK2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.S6921	ENST00000397910.4	37	c.20763	CCDS54212.1	19																																																																																			-	NULL		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	protein_coding	OTTHUMT00000402806.1	G	NM_024690	-		9066683	-1	no_errors	ENST00000397910	ensembl	human	known	74_37	silent	SNP	0.000	T
MCRS1	10445	genome.wustl.edu	37	12	49959887	49959887	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:49959887G>A	ENST00000550165.1	-	4	388	c.122C>T	c.(121-123)aCc>aTc	p.T41I	MCRS1_ENST00000343810.4_Missense_Mutation_p.T41I|MCRS1_ENST00000546244.1_Intron|MCRS1_ENST00000357123.4_Missense_Mutation_p.T54I			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	41	Ser-rich.				cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TTTAGGGATGGTGCCCAAGGC	0.597																																																	0								ENSG00000187778						99.0	92.0	94.0					12																	49959887		2203	4300	6503	MCRS1	SO:0001583	missense	0			-	HGNC	BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.122C>T	12.37:g.49959887G>A	ENSP00000448056:p.Thr41Ile	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	40	23.08	O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.T54I	ENST00000550165.1	37	c.161	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869421	0.32977	.	.	ENSG00000187778	ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173;ENST00000548334;ENST00000548596;ENST00000549528	.	.	.	5.32	5.32	0.75619	.	0.399009	0.31082	N	0.008300	T	0.30854	0.0778	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.12243	-1.0555	9	0.35671	T	0.21	-26.1398	10.0049	0.41951	0.092:0.0:0.908:0.0	.	28;41;54	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	I	41;41;54;28;41;41;41	.	ENSP00000345358:T41I	T	-	2	0	MCRS1	48246154	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.284000	0.51708	2.474000	0.83562	0.563000	0.77884	ACC	-	NULL		0.597	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	protein_coding	OTTHUMT00000405102.1	G	NM_006337	-		49959887	-1	no_errors	ENST00000357123	ensembl	human	known	74_37	missense	SNP	1.000	A
MYC	4609	genome.wustl.edu	37	8	128750684	128750684	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:128750684C>T	ENST00000259523.6	+	2	1381	c.176C>T	c.(175-177)cCg>cTg	p.P59L	MYC_ENST00000524013.1_Missense_Mutation_p.P73L|MYC_ENST00000377970.2_Missense_Mutation_p.P74L			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	59			P -> A (in a Burkitt lymphoma sample). {ECO:0000269|PubMed:8220424}.		branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	CTGCCCACCCCGCCCCTGTCC	0.677		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"""L, E"""	0								ENSG00000136997						16.0	19.0	18.0					8																	128750684		2203	4299	6502	MYC	SO:0001583	missense	0			-	HGNC		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.176C>T	8.37:g.128750684C>T	ENSP00000259523:p.Pro59Leu	Somatic	0	112	0.00	1567	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	46	40.26	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.P74L	ENST00000259523.6	37	c.221		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.09|16.09	3.025619|3.025619	0.54683|0.54683	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617|ENST00000520751	T;T;T;T|.	0.40756|.	1.02;1.02;1.02;1.02|.	4.78|4.78	4.78|4.78	0.61160|0.61160	Transcription regulator Myc, N-terminal (1);|.	0.049059|.	0.85682|.	D|.	0.000000|.	D|D	0.83124|0.83124	0.5186|0.5186	M|M	0.87456|0.87456	2.885|2.885	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.87578|.	0.998|.	D|D	0.86425|0.86425	0.1757|0.1757	10|6	0.87932|0.87932	D|D	0|0	-28.4733|-28.4733	17.3275|17.3275	0.87253|0.87253	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	59|.	P01106|.	MYC_HUMAN|.	L|C	59;73;74;73;40|48	ENSP00000259523:P59L;ENSP00000429441:P73L;ENSP00000367207:P74L;ENSP00000430235:P73L|.	ENSP00000259523:P59L|ENSP00000430226:R48C	P|R	+|+	2|1	0|0	MYC|MYC	128819866|128819866	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.536000|7.536000	0.82023|0.82023	2.654000|2.654000	0.90174|0.90174	0.561000|0.561000	0.74099|0.74099	CCG|CGC	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc		0.677	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	protein_coding	OTTHUMT00000250278.1	C		-		128750684	+1	no_errors	ENST00000377970	ensembl	human	known	74_37	missense	SNP	1.000	T
FZR1	51343	genome.wustl.edu	37	19	3526982	3526982	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:3526982C>T	ENST00000395095.3	+	5	392	c.392C>T	c.(391-393)tCc>tTc	p.S131F	FZR1_ENST00000441788.2_Missense_Mutation_p.S131F|FZR1_ENST00000313639.8_Intron	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	131					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACAGTATTCCCTTAGCACC	0.657																																																	0								ENSG00000105325						176.0	123.0	141.0					19																	3526982		2201	4297	6498	FZR1	SO:0001583	missense	0			-	HGNC	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.392C>T	19.37:g.3526982C>T	ENSP00000378529:p.Ser131Phe	Somatic	0	135	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	52	27.78	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	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	p.S131F	ENST00000395095.3	37	c.392	CCDS45916.1	19	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219117	0.58560	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.57907	0.37;0.52	3.72	3.72	0.42706	.	0.057664	0.64402	D	0.000001	T	0.55847	0.1946	M	0.67397	2.05	0.80722	D	1	B;P	0.43519	0.094;0.809	B;P	0.45232	0.2;0.474	T	0.60219	-0.7306	10	0.39692	T	0.17	-32.8754	14.6151	0.68541	0.0:1.0:0.0:0.0	.	131;131	Q9UM11;Q9UM11-2	FZR_HUMAN;.	F	131	ENSP00000410369:S131F;ENSP00000378529:S131F	ENSP00000378529:S131F	S	+	2	0	FZR1	3477982	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	7.416000	0.80143	2.094000	0.63399	0.555000	0.69702	TCC	-	NULL		0.657	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FZR1	protein_coding	OTTHUMT00000452869.2	C	NM_016263	-		3526982	+1	no_errors	ENST00000395095	ensembl	human	known	74_37	missense	SNP	1.000	T
FAM193B	54540	genome.wustl.edu	37	5	176951573	176951573	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:176951573C>T	ENST00000514747.1	-	6	1957	c.1909G>A	c.(1909-1911)Ggc>Agc	p.G637S	FAM193B_ENST00000508298.1_5'Flank|FAM193B_ENST00000329540.5_Missense_Mutation_p.G263S|FAM193B_ENST00000443375.2_Missense_Mutation_p.G604S	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	717						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TGCCTCTTGCCCTTCTGTGGC	0.662																																																	0								ENSG00000146067						30.0	33.0	32.0					5																	176951573		2017	4192	6209	FAM193B	SO:0001583	missense	0			-	HGNC		CCDS54954.1	5q35	2010-02-17			ENSG00000146067	ENSG00000146067			25524	protein-coding gene	gene with protein product		615813				11572484	Standard	NR_024019		Approved	KIAA1931, FLJ10404	uc003mhu.3	Q96PV7	OTTHUMG00000163396	ENST00000514747.1:c.1909G>A	5.37:g.176951573C>T	ENSP00000422131:p.Gly637Ser	Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	26	48.00	E9PET5|Q9NW00	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G604S	ENST00000514747.1	37	c.1810	CCDS54954.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.83|13.83	2.353114|2.353114	0.41700|0.41700	.|.	.|.	ENSG00000146067|ENSG00000146067	ENST00000524677|ENST00000514747;ENST00000443375;ENST00000329540	.|T;T;T	.|0.40756	.|1.02;1.02;1.02	5.75|5.75	3.7|3.7	0.42460|0.42460	.|.	0.321942|0.321942	0.35179|0.35179	N|N	0.003384|0.003384	T|T	0.14787|0.14787	0.0357|0.0357	N|N	0.03608|0.03608	-0.345|-0.345	0.26748|0.26748	N|N	0.970251|0.970251	.|B;B;B	.|0.14438	.|0.01;0.01;0.001	.|B;B;B	.|0.12156	.|0.007;0.007;0.004	T|T	0.29701|0.29701	-1.0003|-1.0003	6|10	.|0.05525	.|T	.|0.97	-15.7993|-15.7993	6.2572|6.2572	0.20879|0.20879	0.0:0.6148:0.0:0.3852|0.0:0.6148:0.0:0.3852	.|.	.|637;263;604	.|E9PET5;E7ER81;E9PEZ8	.|.;.;.	E|S	322|637;604;263	.|ENSP00000422131:G637S;ENSP00000410098:G604S;ENSP00000332014:G263S	.|ENSP00000332014:G263S	G|G	-|-	2|1	0|0	FAM193B|FAM193B	176884179|176884179	0.997000|0.997000	0.39634|0.39634	1.000000|1.000000	0.80357|0.80357	0.888000|0.888000	0.51559|0.51559	0.800000|0.800000	0.27042|0.27042	1.403000|1.403000	0.46800|0.46800	0.561000|0.561000	0.74099|0.74099	GGG|GGC	-	NULL		0.662	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	protein_coding	OTTHUMT00000373121.1	C	NM_019057	-		176951573	-1	no_errors	ENST00000443375	ensembl	human	known	74_37	missense	SNP	1.000	T
HM13	81502	genome.wustl.edu	37	20	30142484	30142485	+	Intron	INS	-	-	A	rs375749810		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:30142484_30142485insA	ENST00000340852.5	+	8	848				HM13_ENST00000492709.1_Intron|HM13_ENST00000335574.5_Intron|HM13_ENST00000398174.3_Intron|HM13_ENST00000376127.3_Intron	NM_030789.2	NP_110416.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13						membrane protein proteolysis (GO:0033619)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			gactccgtctcaaaaaaaaaaa	0.554																																																	0								ENSG00000101294																																			HM13	SO:0001627	intron_variant	0				HGNC	AL110115	CCDS13182.1, CCDS13183.1, CCDS42861.1	20q11.21	2012-02-21			ENSG00000101294	ENSG00000101294			16435	protein-coding gene	gene with protein product	"""signal peptide peptidase beta"", ""presenilin-like protein 3"", ""intramembrane protease"", ""signal peptide peptidase like 1"""	607106				12077416, 14704149	Standard	NM_030789		Approved	H13, dJ324O17.1, SPP, PSL3, IMP1, IMPAS, PSENL3, SPPL1	uc002wwc.3	Q8TCT9	OTTHUMG00000032175	ENST00000340852.5:c.725-64->A	20.37:g.30142495_30142495dupA		Somatic	0	17	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	B2RAY5|E1P5L3|Q15K36|Q540H8|Q5JWP2|Q5JWP3|Q5JWP4|Q5JWP5|Q7Z4F2|Q86Y35|Q95H87|Q9H110|Q9H111	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000340852.5	37	NULL	CCDS13182.1	20																																																																																			-	-		0.554	HM13-011	KNOWN	basic|appris_principal|CCDS	protein_coding	HM13	protein_coding	OTTHUMT00000078527.2	-	NM_178580			30142485	+1	no_errors	ENST00000474466	ensembl	human	known	74_37	rna	INS	0.193:0.172	A
PGM2	55276	genome.wustl.edu	37	4	37831663	37831663	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:37831663C>T	ENST00000381967.4	+	2	259	c.159C>T	c.(157-159)gcC>gcT	p.A53A	PGM2_ENST00000544359.1_5'UTR|PGM2_ENST00000537241.1_5'UTR	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	53					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						GTTTTGGGGCCCGAATGGAGT	0.428																																																	0								ENSG00000169299						77.0	80.0	79.0					4																	37831663		2203	4300	6503	PGM2	SO:0001819	synonymous_variant	0			-	HGNC	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.159C>T	4.37:g.37831663C>T		Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	55	16.67	B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.A53	ENST00000381967.4	37	c.159	CCDS3443.1	4																																																																																			-	superfamily_A-D-PHexomutase_a/b/a-I/II/III		0.428	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM2	protein_coding	OTTHUMT00000215079.2	C	NM_018290	-		37831663	+1	no_errors	ENST00000381967	ensembl	human	known	74_37	silent	SNP	1.000	T
SLCO1C1	53919	genome.wustl.edu	37	12	20858969	20858969	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:20858969G>A	ENST00000266509.2	+	4	726	c.358G>A	c.(358-360)Gga>Aga	p.G120R	SLCO1C1_ENST00000545604.1_Missense_Mutation_p.G120R|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.G2R|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.G120R|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.G120R	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	120					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TGTAATCATGGGAGTTGGAAC	0.408																																																	0								ENSG00000139155						210.0	208.0	209.0					12																	20858969		2203	4300	6503	SLCO1C1	SO:0001583	missense	0			-	HGNC	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.358G>A	12.37:g.20858969G>A	ENSP00000266509:p.Gly120Arg	Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	26	18.75	B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter	p.G120R	ENST00000266509.2	37	c.358	CCDS8683.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945339	0.73672	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552;ENST00000545102	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.01	4.12	0.48240	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.199500	0.44285	N	0.000463	T	0.60919	0.2306	M	0.81942	2.565	0.40591	D	0.981489	D;D;D;D	0.71674	0.991;0.991;0.998;0.998	P;D;D;D	0.74348	0.876;0.983;0.983;0.983	T	0.64884	-0.6302	10	0.87932	D	0	.	6.829	0.23898	0.0872:0.0:0.6241:0.2886	.	2;120;120;120	F5GZD6;B7Z3Q3;Q5JPA4;Q9NYB5	.;.;.;SO1C1_HUMAN	R	120;120;120;120;2	ENSP00000444149:G120R;ENSP00000438665:G120R;ENSP00000266509:G120R;ENSP00000370964:G120R;ENSP00000444527:G2R	ENSP00000266509:G120R	G	+	1	0	SLCO1C1	20750236	1.000000	0.71417	0.993000	0.49108	0.969000	0.65631	6.482000	0.73613	1.333000	0.45449	0.655000	0.94253	GGA	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter		0.408	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1C1	protein_coding	OTTHUMT00000401765.1	G	NM_017435	-		20858969	+1	no_errors	ENST00000381552	ensembl	human	known	74_37	missense	SNP	1.000	A
ADAM21	8747	genome.wustl.edu	37	14	70925007	70925007	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:70925007G>A	ENST00000603540.1	+	2	1049	c.791G>A	c.(790-792)gGa>gAa	p.G264E	ADAM21_ENST00000267499.3_Missense_Mutation_p.G264E|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	264	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGGAATCAAGGAAATGTTTTC	0.373																																																	0								ENSG00000139985						62.0	64.0	63.0					14																	70925007		2203	4300	6503	ADAM21	SO:0001583	missense	0			-	HGNC	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.791G>A	14.37:g.70925007G>A	ENSP00000474385:p.Gly264Glu	Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02	O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.G264E	ENST00000603540.1	37	c.791	CCDS9804.1	14	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.427739	0.01117	.	.	ENSG00000139985	ENST00000267499	T	0.61627	0.09	4.1	0.763	0.18459	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.526177	0.15593	N	0.254305	T	0.40743	0.1129	L	0.52206	1.635	0.09310	N	1	B	0.11235	0.004	B	0.17979	0.02	T	0.29761	-1.0001	10	0.06099	T	0.92	.	4.787	0.13230	0.385:0.1581:0.4569:0.0	.	264	Q9UKJ8	ADA21_HUMAN	E	264	ENSP00000267499:G264E	ENSP00000267499:G264E	G	+	2	0	ADAM21	69994760	0.000000	0.05858	0.975000	0.42487	0.764000	0.43329	-1.327000	0.02682	0.407000	0.25591	0.557000	0.71058	GGA	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.373	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM21	protein_coding	OTTHUMT00000413008.3	G		-		70925007	+1	no_errors	ENST00000267499	ensembl	human	known	74_37	missense	SNP	0.012	A
CHD5	26038	genome.wustl.edu	37	1	6204083	6204083	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:6204083C>T	ENST00000262450.3	-	12	2034		c.e12+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5						tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTGCGACCCACCTGTGGCCCC	0.617																																																	0								ENSG00000116254						146.0	130.0	136.0					1																	6204083		2203	4300	6503	CHD5	SO:0001630	splice_region_variant	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1934+1G>A	1.37:g.6204083C>T		Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	A8KAP8|A8MQ44|D3DSH9|O60740	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e12+1	ENST00000262450.3	37	c.1934+1	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816642	0.70912	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3289	0.87257	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHD5	6126670	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	7.450000	0.80656	2.392000	0.81423	0.462000	0.41574	.	-	-		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	C	NM_015557	-	Intron	6204083	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	splice_site	SNP	1.000	T
F5	2153	genome.wustl.edu	37	1	169509743	169509743	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:169509743C>T	ENST00000367797.3	-	13	4786	c.4585G>A	c.(4585-4587)Gaa>Aaa	p.E1529K	F5_ENST00000367796.3_Missense_Mutation_p.E1534K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1529	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGGACCTCTTCCTTTGGAATG	0.398																																																	0								ENSG00000198734						83.0	70.0	74.0					1																	169509743		2203	4300	6503	F5	SO:0001583	missense	0			-	HGNC	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4585G>A	1.37:g.169509743C>T	ENSP00000356771:p.Glu1529Lys	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1529K	ENST00000367797.3	37	c.4585	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	9.709	1.156461	0.21454	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98192	-4.78;-4.78	5.93	-5.54	0.02544	.	1.045680	0.07399	N	0.890405	D	0.92961	0.7760	L	0.36672	1.1	0.31839	N	0.623715	B	0.23316	0.083	B	0.17979	0.02	T	0.66256	-0.5969	9	0.32370	T	0.25	-0.0295	20.4031	0.99004	0.0:0.7382:0.121:0.1408	.	1529	P12259	FA5_HUMAN	K	1529;1534	ENSP00000356771:E1529K;ENSP00000356770:E1534K	ENSP00000356770:E1534K	E	-	1	0	F5	167776367	0.000000	0.05858	0.007000	0.13788	0.118000	0.20060	-0.815000	0.04481	-1.508000	0.01800	-0.340000	0.08031	GAA	-	NULL		0.398	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	-		169509743	-1	no_errors	ENST00000367797	ensembl	human	known	74_37	missense	SNP	0.015	T
NFASC	23114	genome.wustl.edu	37	1	204966656	204966656	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:204966656C>T	ENST00000401399.1	+	24	3218				NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000367172.4_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000495396.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367171.4_Intron			O94856	NFASC_HUMAN	neurofascin						axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACCACCTCCCTTTGTGTTT	0.652																																																	0								ENSG00000163531																																			NFASC	SO:0001627	intron_variant	0			-	HGNC	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.3019+122C>T	1.37:g.204966656C>T		Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	28	36.36	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000401399.1	37	NULL	CCDS53460.1	1																																																																																			-	-		0.652	NFASC-001	KNOWN	basic|CCDS	protein_coding	NFASC	protein_coding	OTTHUMT00000131237.1	C	NM_001005388	-		204966656	+1	no_errors	ENST00000492085	ensembl	human	known	74_37	rna	SNP	0.002	T
SMTN	6525	genome.wustl.edu	37	22	31483984	31483984	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:31483984C>T	ENST00000347557.2	+	3	303	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	SMTN_ENST00000333137.7_Missense_Mutation_p.R29C|SMTN_ENST00000358743.1_Missense_Mutation_p.R29C|SMTN_ENST00000475548.1_3'UTR	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	29					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						AGAGCGGCGGCGCATCCGCTC	0.677																																																	0								ENSG00000183963						22.0	23.0	22.0					22																	31483984		2192	4281	6473	SMTN	SO:0001583	missense	0			-	HGNC	AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.85C>T	22.37:g.31483984C>T	ENSP00000328635:p.Arg29Cys	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R29C	ENST00000347557.2	37	c.85	CCDS13886.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.078117|4.078117	0.76528|0.76528	.|.	.|.	ENSG00000183963|ENSG00000183963	ENST00000438223|ENST00000432777;ENST00000422839;ENST00000426927;ENST00000440425;ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496;ENST00000431481	.|T;T;T;T;T;T;T;T	.|0.53640	.|0.61;0.61;0.61;0.61;0.61;0.61;0.61;0.61	4.8|4.8	2.52|2.52	0.30459|0.30459	.|.	.|0.000000	.|0.35970	.|N	.|0.002864	T|T	0.47192|0.47192	0.1432|0.1432	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.76494	.|0.999;0.999;0.998;0.998;0.998;0.998	.|P;P;P;P;P;P	.|0.60886	.|0.88;0.88;0.88;0.88;0.88;0.809	T|T	0.49899|0.49899	-0.8890|-0.8890	5|10	.|0.87932	.|D	.|0	-7.7084|-7.7084	9.8501|9.8501	0.41051|0.41051	0.2744:0.5925:0.1331:0.0|0.2744:0.5925:0.1331:0.0	.|.	.|85;83;21;29;29;29	.|E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.|.;.;.;.;SMTN_HUMAN;.	V|C	83|83;29;83;83;29;29;29;29;21;21	.|ENSP00000398663:R83C;ENSP00000390453:R29C;ENSP00000399432:R83C;ENSP00000401341:R83C;ENSP00000351593:R29C;ENSP00000328635:R29C;ENSP00000329532:R29C;ENSP00000394637:R21C	.|ENSP00000329393:R29C	A|R	+|+	2|1	0|0	SMTN|SMTN	29813984|29813984	0.835000|0.835000	0.29415|0.29415	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	1.342000|1.342000	0.33919|0.33919	1.141000|1.141000	0.42275|0.42275	0.650000|0.650000	0.86243|0.86243	GCG|CGC	-	pfam_Smoothelin		0.677	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	protein_coding	OTTHUMT00000321766.1	C	NM_134270	-		31483984	+1	no_errors	ENST00000347557	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC13A2	9058	genome.wustl.edu	37	17	26817366	26817366	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:26817366G>A	ENST00000314669.5	+	3	651				SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000444914.3_Silent_p.G91G|SLC13A2_ENST00000545060.1_Intron	NM_003984.3	NP_003975.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2						dicarboxylic acid transport (GO:0006835)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	low-affinity sodium:dicarboxylate symporter activity (GO:0015361)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	AGAGCCCAGGGGAATGCCAGT	0.517																																																	0								ENSG00000007216						23.0	26.0	25.0					17																	26817366		692	1591	2283	SLC13A2	SO:0001627	intron_variant	0			-	HGNC	U26209	CCDS11231.1, CCDS54098.1	17p13.2	2013-05-22			ENSG00000007216	ENSG00000007216		"""Solute carriers"""	10917	protein-coding gene	gene with protein product		604148				8967342, 10343111	Standard	NM_001145975		Approved	NaDC-1	uc010wan.2	Q13183	OTTHUMG00000132523	ENST00000314669.5:c.232-106G>A	17.37:g.26817366G>A		Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	27	38.64	B2RBI9|B4DPL1|E7ETH5|Q4VAR7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.G91	ENST00000314669.5	37	c.273	CCDS11231.1	17																																																																																			-	pfam_Na/sul_symport		0.517	SLC13A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A2	protein_coding	OTTHUMT00000255722.1	G	NM_003984	-		26817366	+1	no_errors	ENST00000444914	ensembl	human	known	74_37	silent	SNP	0.148	A
CLEC2D	29121	genome.wustl.edu	37	12	9840655	9840655	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:9840655T>C	ENST00000290855.6	+	3	352	c.330T>C	c.(328-330)ctT>ctC	p.L110L	CLEC2D_ENST00000261339.6_Silent_p.L73L|CLEC2D_ENST00000545918.1_Silent_p.L73L|CLEC2D_ENST00000261340.7_Silent_p.L110L|CLEC2D_ENST00000543300.1_Silent_p.L110L	NM_013269.5	NP_037401.1	Q9UHP7	CLC2D_HUMAN	C-type lectin domain family 2, member D	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|stomach(1)	9						ATGCTGATCTTGCTCAGGTTG	0.388																																																	0								ENSG00000069493						61.0	60.0	61.0					12																	9840655		2203	4300	6503	CLEC2D	SO:0001819	synonymous_variant	0			-	HGNC	AF133299	CCDS8602.1, CCDS31741.1, CCDS55800.1, CCDS55801.1, CCDS55802.1	12p13.31	2011-05-24	2005-09-29		ENSG00000069493	ENSG00000069493		"""C-type lectin domain containing"""	14351	protein-coding gene	gene with protein product	"""C-type lectin related f"", ""lectin-like transcript 1"""	605659	"""C-type lectin superfamily 2, member D"""				Standard	NM_013269		Approved	LLT1, CLAX, OCIL	uc001qwf.3	Q9UHP7	OTTHUMG00000168369	ENST00000290855.6:c.330T>C	12.37:g.9840655T>C		Somatic	0	104	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	49	25.76	D6CI39|D6CI40|D6CI41|Q6YID5|Q8WUP7|Q9HD37|Q9HD38	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L110	ENST00000290855.6	37	c.330	CCDS8602.1	12																																																																																			-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.388	CLEC2D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC2D	protein_coding	OTTHUMT00000335424.2	T	NM_013269	-		9840655	+1	no_errors	ENST00000261340	ensembl	human	known	74_37	silent	SNP	0.004	C
DCC	1630	genome.wustl.edu	37	18	50683792	50683792	+	Missense_Mutation	SNP	G	G	A	rs200830938	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:50683792G>A	ENST00000442544.2	+	8	1944	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	DCC_ENST00000581580.1_Missense_Mutation_p.R98Q|DCC_ENST00000412726.1_Missense_Mutation_p.R291Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	443	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R443Q(2)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GTTTCCAGCCGATTTGTCCGT	0.527													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18055	0.0		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	prostate(1)|endometrium(1)						ENSG00000187323	G	GLN/ARG	0,4406		0,0,2203	163.0	148.0	153.0		1328	5.4	1.0	18		153	1,8599	1.2+/-3.3	0,1,4299	no	missense	DCC	NM_005215.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	443/1448	50683792	1,13005	2203	4300	6503	DCC	SO:0001583	missense	0			GMAF=0.0005	HGNC	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1328G>A	18.37:g.50683792G>A	ENSP00000389140:p.Arg443Gln	Somatic	0	121	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R443Q	ENST00000442544.2	37	c.1328	CCDS11952.1	18	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.21	3.330476	0.60743	0.0	1.16E-4	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	T;T	0.57436	0.4;0.4	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.72882	0.3516	M	0.73319	2.225	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.75569	-0.3272	10	0.87932	D	0	.	18.0448	0.89329	0.0:0.0:1.0:0.0	.	291;291;443	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	Q	443;376;291	ENSP00000389140:R443Q;ENSP00000397322:R291Q	ENSP00000304146:R376Q	R	+	2	0	DCC	48937790	1.000000	0.71417	0.979000	0.43373	0.729000	0.41735	8.879000	0.92398	2.567000	0.86603	0.561000	0.74099	CGA	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.527	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	G	NM_005215	rs200830938		50683792	+1	no_errors	ENST00000442544	ensembl	human	known	74_37	missense	SNP	1.000	A
OR2F2	135948	genome.wustl.edu	37	7	143633090	143633090	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:143633090G>A	ENST00000408955.2	+	1	832	c.765G>A	c.(763-765)acG>acA	p.T255T		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ACGGCACAACGATTTTCACTT	0.512																																																	0								ENSG00000221910						118.0	114.0	116.0					7																	143633090		2203	4300	6503	OR2F2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.765G>A	7.37:g.143633090G>A		Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	15	42.86	A4D2G0|Q6IFP8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T255	ENST00000408955.2	37	c.765	CCDS43666.1	7																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2F2	protein_coding	OTTHUMT00000349570.1	G		-		143633090	+1	no_errors	ENST00000408955	ensembl	human	known	74_37	silent	SNP	0.035	A
ZNF451	26036	genome.wustl.edu	37	6	56966678	56966678	+	Intron	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:56966678T>A	ENST00000370706.4	+	3	430				ZNF451_ENST00000491832.2_Intron|ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000370702.1_Intron|ZNF451_ENST00000370708.4_Missense_Mutation_p.D488E	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTGGACAAGATGTGAAAGCTG	0.388																																																	0								ENSG00000112200																																			ZNF451	SO:0001627	intron_variant	0			-	HGNC	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.186+2739T>A	6.37:g.56966678T>A		Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	9	58.33	Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LAP2alpha	p.D488E	ENST00000370706.4	37	c.1464	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	T	14.66	2.600418	0.46423	.	.	ENSG00000112200	ENST00000370708	T	0.39997	1.05	4.58	4.58	0.56647	.	.	.	.	.	T	0.31513	0.0799	.	.	.	0.80722	D	1	D	0.61697	0.99	D	0.75484	0.986	T	0.35276	-0.9795	8	0.02654	T	1	.	10.6411	0.45594	0.0:0.0:0.0:1.0	.	488	Q9Y4E5-4	.	E	488	ENSP00000359742:D488E	ENSP00000359742:D488E	D	+	3	2	ZNF451	57074637	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.093000	0.50217	2.275000	0.75901	0.533000	0.62120	GAT	-	pfam_LAP2alpha		0.388	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	protein_coding	OTTHUMT00000041035.2	T	NM_015555	-		56966678	+1	no_errors	ENST00000370708	ensembl	human	known	74_37	missense	SNP	1.000	A
CYP2C18	1562	genome.wustl.edu	37	10	96447886	96447886	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:96447886C>T	ENST00000285979.6	+	3	535	c.336C>T	c.(334-336)atC>atT	p.I112I	CYP2C18_ENST00000339022.5_Silent_p.I112I	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	112					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	TGCTAGGAATCCTTTTCAGCA	0.517																																																	0								ENSG00000108242						89.0	80.0	83.0					10																	96447886		2203	4300	6503	CYP2C18	SO:0001819	synonymous_variant	0			-	HGNC	M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.336C>T	10.37:g.96447886C>T		Somatic	0	115	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	48	29.41	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.I112	ENST00000285979.6	37	c.336	CCDS7435.1	10																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.517	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	protein_coding	OTTHUMT00000049486.1	C	NM_000772	-		96447886	+1	no_errors	ENST00000285979	ensembl	human	known	74_37	silent	SNP	0.001	T
DENND4A	10260	genome.wustl.edu	37	15	66030231	66030231	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:66030231G>A	ENST00000431932.2	-	7	1062	c.854C>T	c.(853-855)aCa>aTa	p.T285I	DENND4A_ENST00000443035.3_Missense_Mutation_p.T285I	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	285					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						CTGCTTTTCTGTGAGATTCTC	0.348																																																	0								ENSG00000174485						50.0	45.0	47.0					15																	66030231		1832	4088	5920	DENND4A	SO:0001583	missense	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.854C>T	15.37:g.66030231G>A	ENSP00000396830:p.Thr285Ile	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_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.T285I	ENST00000431932.2	37	c.854	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804452	0.90623	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.05925	3.37;3.4	5.29	5.29	0.74685	.	0.151917	0.64402	D	0.000019	T	0.22322	0.0538	M	0.68593	2.085	0.80722	D	1	P;D;D	0.69078	0.834;0.997;0.997	B;P;P	0.60117	0.288;0.869;0.761	T	0.00137	-1.2004	10	0.72032	D	0.01	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	285;285;285	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	I	285	ENSP00000391167:T285I;ENSP00000396830:T285I	ENSP00000396830:T285I	T	-	2	0	DENND4A	63817285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.970000	0.88000	2.646000	0.89796	0.591000	0.81541	ACA	-	NULL		0.348	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	protein_coding	OTTHUMT00000419611.1	G	NM_005848	-		66030231	-1	no_errors	ENST00000443035	ensembl	human	known	74_37	missense	SNP	1.000	A
CTDSPL	10217	genome.wustl.edu	37	3	38010914	38010914	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:38010914C>T	ENST00000273179.5	+	5	452				CTDSPL_ENST00000443503.2_Intron|CTDSPL_ENST00000310189.3_Intron|MIR26A1_ENST00000362205.1_RNA	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like							extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TTCAAGTAATCCAGGATAGGC	0.632																																																	0								ENSG00000199075						47.0	55.0	52.0					3																	38010914		1568	3582	5150	MIR26A1	SO:0001627	intron_variant	0			-	HGNC	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.426+1541C>T	3.37:g.38010914C>T		Somatic	0	135	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	52	48.00	Q3ZTU0|Q70KI4|Q7Z5Q2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000273179.5	37	NULL	CCDS33734.1	3																																																																																			-	-		0.632	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR26A1	protein_coding	OTTHUMT00000342392.1	C	NM_005808	-		38010914	+1	no_errors	ENST00000362205	ensembl	human	known	74_37	rna	SNP	1.000	T
TCAM1P	146771	genome.wustl.edu	37	17	61940101	61940101	+	RNA	SNP	A	A	C	rs200888650		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:61940101A>C	ENST00000478379.1	+	0	1679					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		ATGAAGGAATAAGCTCTACCC	0.512																																																	0								ENSG00000240280																																			TCAM1P			0			-	HGNC	AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61940101A>C		Somatic	0	20	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			-	-		0.512	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	pseudogene	OTTHUMT00000335083.1	A		rs200888650		61940101	+1	no_errors	ENST00000478379	ensembl	human	known	74_37	rna	SNP	0.039	C
UGT2B15	7366	genome.wustl.edu	37	4	69519760	69519760	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:69519760G>A	ENST00000338206.5	-	5	1317	c.1308C>T	c.(1306-1308)gaC>gaT	p.D436D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	436					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	CTCACACAGGGTCATTAATGA	0.378																																																	0								ENSG00000196620						183.0	167.0	172.0					4																	69519760		2203	4296	6499	UGT2B15	SO:0001819	synonymous_variant	0			-	HGNC	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1308C>T	4.37:g.69519760G>A		Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	48	19.67	A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D436	ENST00000338206.5	37	c.1308	CCDS3524.1	4																																																																																			-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.378	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	protein_coding	OTTHUMT00000365172.1	G	NM_001076	-		69519760	-1	no_errors	ENST00000338206	ensembl	human	known	74_37	silent	SNP	0.523	A
PI4KA	5297	genome.wustl.edu	37	22	21084218	21084218	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21084218G>A	ENST00000572273.1	-	37	4426	c.4196C>T	c.(4195-4197)cCc>cTc	p.P1399L	PI4KA_ENST00000414196.3_Missense_Mutation_p.P209L|PI4KA_ENST00000255882.6_Missense_Mutation_p.P1457L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1399					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GCTGGACAGGGGGTATGTGTT	0.547																																					GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						114.0	82.0	93.0					22																	21084218		2203	4300	6503	PI4KA	SO:0001583	missense	0			-	HGNC	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4196C>T	22.37:g.21084218G>A	ENSP00000458238:p.Pro1399Leu	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q7Z625|Q9UPG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P1457L	ENST00000572273.1	37	c.4370		22	.	.	.	.	.	.	.	.	.	.	G	28.4	4.918273	0.92249	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.77358	-1.09	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.84705	0.5531	M	0.71036	2.16	0.80722	D	1	P	0.48294	0.908	P	0.52957	0.714	D	0.85731	0.1331	10	0.59425	D	0.04	-28.0225	19.29	0.94095	0.0:0.0:1.0:0.0	.	1399	P42356	PI4KA_HUMAN	L	1399;209	ENSP00000402981:P209L	ENSP00000255882:P1399L	P	-	2	0	PI4KA	19414218	1.000000	0.71417	0.992000	0.48379	0.629000	0.37895	9.723000	0.98772	2.569000	0.86673	0.563000	0.77884	CCC	-	NULL		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21084218	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176638415	176638415	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:176638415C>T	ENST00000439151.2	+	5	3060	c.3015C>T	c.(3013-3015)ctC>ctT	p.L1005L	NSD1_ENST00000347982.4_Silent_p.L736L|NSD1_ENST00000361032.4_Silent_p.L902L|NSD1_ENST00000354179.4_Silent_p.L736L	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1005					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGAGACCTCCCTGCTTCTG	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0								ENSG00000165671						123.0	117.0	119.0					5																	176638415		2203	4300	6503	NSD1	SO:0001819	synonymous_variant	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	-	HGNC	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.3015C>T	5.37:g.176638415C>T		Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	4	69.23	Q96PD8|Q96RN7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.L1005	ENST00000439151.2	37	c.3015	CCDS4412.1	5																																																																																			-	NULL		0.512	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	C	NM_172349	-		176638415	+1	no_errors	ENST00000439151	ensembl	human	known	74_37	silent	SNP	0.091	T
NAT1	9	genome.wustl.edu	37	8	18079883	18079883	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:18079883C>T	ENST00000517492.1	+	3	965	c.327C>T	c.(325-327)ctC>ctT	p.L109L	NAT1_ENST00000541942.1_Silent_p.L109L|NAT1_ENST00000520546.1_Silent_p.L109L|NAT1_ENST00000535084.1_Silent_p.L109L|NAT1_ENST00000307719.4_Silent_p.L109L|NAT1_ENST00000545197.1_Silent_p.L171L|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000518029.1_Silent_p.L109L|NAT1_ENST00000539092.1_Silent_p.L109L			Q8IZM9	S38A6_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	0					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		TTCACCTTCTCCTGCAGGTGA	0.493																																																	0								ENSG00000171428						179.0	172.0	174.0					8																	18079883		2203	4300	6503	NAT1	SO:0001819	synonymous_variant	0			-	HGNC	BC047666	CCDS6007.1, CCDS55205.1	8p22	2012-01-18			ENSG00000171428	ENSG00000171428	2.3.1.5		7645	protein-coding gene	gene with protein product		108345		AAC1		7773298	Standard	NM_001160174		Approved		uc003wyt.3	P18440	OTTHUMG00000097001	ENST00000517492.1:c.327C>T	8.37:g.18079883C>T		Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	24	40.00	C9JWA6|Q86SY5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase	p.L171	ENST00000517492.1	37	c.513	CCDS6007.1	8																																																																																			-	pfam_Arylamine_N-AcTrfase,prints_Arylamine_N-AcTrfase		0.493	NAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NAT1	protein_coding	OTTHUMT00000374828.1	C	NM_000662	-		18079883	+1	no_errors	ENST00000545197	ensembl	human	known	74_37	silent	SNP	0.003	T
FSD1L	83856	genome.wustl.edu	37	9	108223836	108223836	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:108223836T>A	ENST00000481272.1	+	2	170	c.51T>A	c.(49-51)gaT>gaA	p.D17E	FSD1L_ENST00000484973.1_Intron|FSD1L_ENST00000374710.3_Intron|FSD1L_ENST00000374716.4_Intron|FSD1L_ENST00000480279.1_Intron|FSD1L_ENST00000539376.1_Intron|FSD1L_ENST00000495708.1_Missense_Mutation_p.D17E|FSD1L_ENST00000394926.3_Intron	NM_001145313.1	NP_001138785.1	Q9BXM9	FSD1L_HUMAN	fibronectin type III and SPRY domain containing 1-like	17										NS(1)|endometrium(1)	2						TTACAGTTGATAAAGCCTGTT	0.378																																																	0								ENSG00000106701						196.0	165.0	174.0					9																	108223836		692	1591	2283	FSD1L	SO:0001583	missense	0			-	HGNC	AF316830	CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1	9q31	2013-02-11	2006-03-10	2006-03-10	ENSG00000106701	ENSG00000106701		"""Fibronectin type III domain containing"""	13753	protein-coding gene	gene with protein product		609829	"""cystatin and DUF19 domain containing 1"", ""coiled-coil domain containing 10"""	CSDUFD1, CCDC10, FSD1NL, FSD1CL		11267680	Standard	XM_005252254		Approved		uc004bcq.2	Q9BXM9	OTTHUMG00000020426	ENST00000481272.1:c.51T>A	9.37:g.108223836T>A	ENSP00000417492:p.Asp17Glu	Somatic	0	151	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	81	20.59	A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.D17E	ENST00000481272.1	37	c.51	CCDS47999.1	9	.	.	.	.	.	.	.	.	.	.	T	13.84	2.356300	0.41700	.	.	ENSG00000106701	ENST00000495708;ENST00000481272	T;T	0.70749	-0.39;-0.51	3.0	3.0	0.34707	.	.	.	.	.	T	0.49712	0.1573	N	0.14661	0.345	0.51482	D	0.999925	B	0.11235	0.004	B	0.12837	0.008	T	0.44205	-0.9343	9	0.33141	T	0.24	.	7.7736	0.29023	0.0:0.0:0.0:1.0	.	17	Q9BXM9	FSD1L_HUMAN	E	17	ENSP00000420624:D17E;ENSP00000417492:D17E	ENSP00000417492:D17E	D	+	3	2	FSD1L	107263657	0.045000	0.20229	0.449000	0.26957	0.037000	0.13140	1.997000	0.40786	1.597000	0.50072	0.533000	0.62120	GAT	-	NULL		0.378	FSD1L-007	NOVEL	basic|CCDS	protein_coding	FSD1L	protein_coding	OTTHUMT00000349935.1	T	NM_207647	-		108223836	+1	no_errors	ENST00000481272	ensembl	human	novel	74_37	missense	SNP	0.591	A
BCAN	63827	genome.wustl.edu	37	1	156616443	156616449	+	Intron	DEL	CCCTGGC	CCCTGGC	-	rs113490499|rs368082583|rs200291408|rs200678440	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	CCCTGGC	CCCTGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:156616443_156616449delCCCTGGC	ENST00000329117.5	+	3	427				RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Intron|RP11-284F21.10_ENST00000605886.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCTGCAGGAccctggcccctggcccc	0.686														1575	0.314497	0.1377	0.4352	5008	,	,		12797	0.3532		0.3549	False		,,,				2504	0.3865																0								ENSG00000229953																																			RP11-284F21.7	SO:0001627	intron_variant	0				Clone_based_vega_gene	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.92-144CCCTGGC>-	1.37:g.156616450_156616456delCCCTGGC		Somatic	NA	NA	NA		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000329117.5	37	NULL	CCDS1149.1	1																																																																																			-	-		0.686	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000229953	protein_coding	OTTHUMT00000081844.2	CCCTGGC	NM_021948			156616449	-1	no_errors	ENST00000448869	ensembl	human	known	74_37	rna	DEL	0.040:0.040:0.040:0.039:0.037:0.036:0.008	-
GSK3A	2931	genome.wustl.edu	37	19	42747147	42747147	+	5'Flank	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:42747147C>T	ENST00000222330.3	-	0	0				GSK3A_ENST00000398249.4_5'Flank|AC006486.9_ENST00000594664.1_Intron|AC006486.1_ENST00000378108.1_Missense_Mutation_p.P49S	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGAGTCGTCGCCACGCCCTCA	0.592																																																	0								ENSG00000204957																																			AC006486.1	SO:0001631	upstream_gene_variant	0			-	Clone_based_ensembl_gene		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722		19.37:g.42747147C>T	Exception_encountered	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	22	33.33	O14959	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P49S	ENST00000222330.3	37	c.145	CCDS12599.1	19	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537547	0.45176	.	.	ENSG00000204957	ENST00000378108	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	T	0.53498	0.1800	.	.	.	0.26786	N	0.969498	.	.	.	.	.	.	T	0.50947	-0.8767	5	0.87932	D	0	.	12.1276	0.53924	0.0:1.0:0.0:0.0	.	.	.	.	S	49	.	ENSP00000367348:P49S	P	+	1	0	AC006486.1	47438987	0.853000	0.29707	0.988000	0.46212	0.961000	0.63080	1.297000	0.33400	2.335000	0.79485	0.591000	0.81541	CCA	-	NULL		0.592	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000204957	protein_coding	OTTHUMT00000319782.1	C		-		42747147	+1	no_errors	ENST00000378108	ensembl	human	known	74_37	missense	SNP	0.974	T
IGSF22	283284	genome.wustl.edu	37	11	18730958	18730958	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:18730958C>T	ENST00000513874.1	-	18	3113	c.2974G>A	c.(2974-2976)Ggg>Agg	p.G992R	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	891										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GCACGGACCCCCTTGTCTAGC	0.582																																																	0								ENSG00000179057						75.0	77.0	77.0					11																	18730958		1976	4148	6124	IGSF22	SO:0001583	missense	0			-	HGNC	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2974G>A	11.37:g.18730958C>T	ENSP00000421191:p.Gly992Arg	Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	37	27.45	A6NNA0|D6RGV7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G992R	ENST00000513874.1	37	c.2974	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568181	0.45798	.	.	ENSG00000179057	ENST00000513874	T	0.51071	0.72	4.21	3.3	0.37823	.	.	.	.	.	T	0.30324	0.0761	N	0.17474	0.49	0.09310	N	1	B	0.22414	0.069	B	0.17722	0.019	T	0.16070	-1.0415	9	0.30854	T	0.27	.	9.8307	0.40939	0.0:0.9023:0.0:0.0977	.	992	D6RGV7	.	R	992	ENSP00000421191:G992R	ENSP00000322422:G891R	G	-	1	0	IGSF22	18687534	0.001000	0.12720	0.068000	0.19968	0.682000	0.39822	1.300000	0.33436	0.995000	0.38917	0.655000	0.94253	GGG	-	pfscan_Fibronectin_type3		0.582	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	protein_coding	OTTHUMT00000360850.2	C	NM_173588	-		18730958	-1	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	SNP	0.092	T
CAPN7	23473	genome.wustl.edu	37	3	15283684	15283684	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:15283684G>A	ENST00000253693.2	+	16	2041		c.e16-1			NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7						positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TGTGATTTTAGGATGATTTTG	0.318																																																	0								ENSG00000131375						78.0	76.0	77.0					3																	15283684		2203	4295	6498	CAPN7	SO:0001630	splice_region_variant	0			-	HGNC	AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.1789-1G>A	3.37:g.15283684G>A		Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07		Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e16-1	ENST00000253693.2	37	c.1789-1	CCDS2624.1	3	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475771	0.84640	.	.	ENSG00000131375	ENST00000253693	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.064	0.93103	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CAPN7	15258688	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.757000	0.85209	2.590000	0.87494	0.561000	0.74099	.	-	-		0.318	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN7	protein_coding	OTTHUMT00000252105.2	G	NM_014296	-	Intron	15283684	+1	no_errors	ENST00000253693	ensembl	human	known	74_37	splice_site	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2157673	2157673	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:2157673G>A	ENST00000262304.4	-	16	7274				PKD1_ENST00000561991.1_5'Flank|PKD1_ENST00000423118.1_Intron	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)						anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTGCCACTAGAGCATATGTG	0.517																																																	0								ENSG00000008710																																			PKD1	SO:0001627	intron_variant	0			-	HGNC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.7065+210C>T	16.37:g.2157673G>A		Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	Q15140|Q15141	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000262304.4	37	NULL	CCDS32369.1	16																																																																																			-	-		0.517	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	protein_coding	OTTHUMT00000341688.1	G		-		2157673	-1	no_errors	ENST00000483558	ensembl	human	known	74_37	rna	SNP	0.000	A
TCF7L2	6934	genome.wustl.edu	37	10	114912183	114912183	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:114912183C>T	ENST00000355995.4	+	11	1760	c.1253C>T	c.(1252-1254)tCc>tTc	p.S418F	TCF7L2_ENST00000369397.4_Missense_Mutation_p.S395F|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S442F|TCF7L2_ENST00000542695.1_Missense_Mutation_p.S134F|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000369386.1_Missense_Mutation_p.S61F|TCF7L2_ENST00000352065.5_Missense_Mutation_p.S395F|TCF7L2_ENST00000538897.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000369389.1_Missense_Mutation_p.S129F|TCF7L2_ENST00000545257.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S418F|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S418F			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	418					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CCCGGCTGGTCCGCGCGGGAT	0.537			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0								ENSG00000148737						116.0	123.0	120.0					10																	114912183		2203	4300	6503	TCF7L2	SO:0001583	missense	0			-	HGNC	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.1253C>T	10.37:g.114912183C>T	ENSP00000348274:p.Ser418Phe	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S418F	ENST00000355995.4	37	c.1253		10	.	.	.	.	.	.	.	.	.	.	c	31	5.058496	0.93846	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000352065;ENST00000542695;ENST00000369389;ENST00000277945;ENST00000369386	D;D;D;D;D;D;D;D;D;D;D;D	0.99394	-5.28;-5.3;-5.29;-5.29;-5.78;-5.82;-5.82;-5.3;-5.8;-5.23;-5.69;-5.74	5.66	5.66	0.87406	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.053561	0.85682	D	0.000000	D	0.99527	0.9831	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;0.983;0.999;0.999;1.0;0.999;1.0;1.0;1.0;0.999;0.997;1.0;1.0;0.999;0.999;1.0;0.992;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.968;0.996;0.962;0.999;0.999;0.999;0.995;0.998;1.0;0.998;0.997;0.972;0.998;0.999;0.997;0.997;0.995;0.936;1.0	D	0.98595	1.0656	10	0.87932	D	0	-23.4883	19.7439	0.96243	0.0:1.0:0.0:0.0	.	275;235;317;418;289;333;391;395;395;361;418;395;395;400;442;395;418;391;395	B4DJZ2;B7Z9Z6;B4DWD5;Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	.;.;.;TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	F	418;418;418;418;442;418;418;395;395;134;129;135;61	ENSP00000348274:S418F;ENSP00000440547:S418F;ENSP00000444972:S418F;ENSP00000446238:S418F;ENSP00000347949:S442F;ENSP00000446172:S418F;ENSP00000443626:S418F;ENSP00000358404:S395F;ENSP00000344823:S395F;ENSP00000443883:S134F;ENSP00000358396:S129F;ENSP00000277945:S135F	ENSP00000277945:S135F	S	+	2	0	TCF7L2	114902173	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.814000	0.86154	2.669000	0.90835	0.655000	0.94253	TCC	-	superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom		0.537	TCF7L2-203	KNOWN	basic	protein_coding	TCF7L2	protein_coding		C	NM_030756	-		114912183	+1	no_errors	ENST00000355995	ensembl	human	known	74_37	missense	SNP	1.000	T
CHD5	26038	genome.wustl.edu	37	1	6204084	6204084	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:6204084C>T	ENST00000262450.3	-	12	2033	c.1934G>A	c.(1933-1935)aGg>aAg	p.R645K	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TGCGACCCACCTGTGGCCCCA	0.617																																																	0								ENSG00000116254						146.0	131.0	136.0					1																	6204084		2203	4300	6503	CHD5	SO:0001630	splice_region_variant	0			-	HGNC	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.1934+1G>A	1.37:g.6204084C>T		Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	42	20.75	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R645K	ENST00000262450.3	37	c.1934	CCDS57.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968088	0.74131	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.91068	-2.78	4.3	4.3	0.51218	Chromo domain-like (1);Chromo domain/shadow (1);	0.000000	0.85682	D	0.000000	D	0.94922	0.8358	M	0.81802	2.56	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	D	0.94953	0.8101	9	.	.	.	-47.8203	17.3289	0.87257	0.0:1.0:0.0:0.0	.	645	Q8TDI0	CHD5_HUMAN	K	645;161;53;53	ENSP00000262450:R645K	.	R	-	2	0	CHD5	6126671	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.450000	0.80656	2.392000	0.81423	0.462000	0.41574	AGG	-	superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow		0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD5	protein_coding	OTTHUMT00000002823.2	C	NM_015557	-	Missense_Mutation	6204084	-1	no_errors	ENST00000262450	ensembl	human	known	74_37	missense	SNP	1.000	T
WDR16	146845	genome.wustl.edu	37	17	9536293	9536293	+	Silent	SNP	C	C	T	rs187332485	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:9536293C>T	ENST00000352665.5	+	10	1332	c.1263C>T	c.(1261-1263)acC>acT	p.T421T	WDR16_ENST00000396219.3_Silent_p.T353T|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000299764.5_Silent_p.T431T	NM_145054.4	NP_659491.4			WD repeat domain 16											NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCGGCGTCACCGCCATCGCCA	0.502													C|||	4	0.000798722	0.0008	0.0	5008	,	,		17649	0.0		0.0	False		,,,				2504	0.0031																0								ENSG00000166596						81.0	70.0	74.0					17																	9536293		2203	4300	6503	WDR16	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB065281	CCDS11149.2, CCDS42262.1	17p13.1	2014-08-01			ENSG00000166596	ENSG00000166596		"""WD repeat domain containing"""	16053	protein-coding gene	gene with protein product	"""WD40-repeat protein upregulated in HCC"""	609804				15967112	Standard	NM_001080556		Approved	WDRPUH, FLJ37528	uc002gly.3	Q8N1V2	OTTHUMG00000150149	ENST00000352665.5:c.1263C>T	17.37:g.9536293C>T		Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	14	39.13		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T431	ENST00000352665.5	37	c.1293	CCDS11149.2	17																																																																																			-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.502	WDR16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR16	protein_coding	OTTHUMT00000316569.2	C	NM_145054	rs187332485		9536293	+1	no_errors	ENST00000299764	ensembl	human	known	74_37	silent	SNP	0.002	T
KRTAP9-9	81870	genome.wustl.edu	37	17	39412008	39412008	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:39412008C>T	ENST00000394008.1	+	1	373	c.371C>T	c.(370-372)cCt>cTt	p.P124L		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	109	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GTCTGCCTGCCTGGTTGCCTC	0.632																																																	0								ENSG00000198083						175.0	182.0	180.0					17																	39412008		2203	4300	6503	KRTAP9-9	SO:0001583	missense	0			-	HGNC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.371C>T	17.37:g.39412008C>T	ENSP00000377576:p.Pro124Leu	Somatic	0	144	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	74	23.71	B5MDD6|Q9BYQ1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P124L	ENST00000394008.1	37	c.371	CCDS54127.1	17	.	.	.	.	.	.	.	.	.	.	.	16.92	3.255191	0.59321	.	.	ENSG00000198083	ENST00000431129;ENST00000394008	T	0.00864	5.6	2.88	1.9	0.25705	.	.	.	.	.	T	0.01627	0.0052	M	0.78916	2.43	0.29402	N	0.861847	B	0.22346	0.068	B	0.19666	0.026	T	0.14615	-1.0466	9	0.54805	T	0.06	.	5.5052	0.16850	0.0:0.8433:0.0:0.1567	.	109	Q9BYP9	KRA99_HUMAN	L	130;124	ENSP00000377576:P124L	ENSP00000377576:P124L	P	+	2	0	KRTAP9-9	36665534	0.520000	0.26250	0.236000	0.24074	0.469000	0.32828	0.490000	0.22403	0.788000	0.33755	0.456000	0.33151	CCT	-	NULL		0.632	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	protein_coding	OTTHUMT00000257710.1	C	NM_030975	-		39412008	+1	no_errors	ENST00000394008	ensembl	human	known	74_37	missense	SNP	0.769	T
ATL1	51062	genome.wustl.edu	37	14	51094955	51094955	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:51094955C>T	ENST00000358385.6	+	12	1567	c.1326C>T	c.(1324-1326)ttC>ttT	p.F442F	ATL1_ENST00000441560.2_Silent_p.F442F|ATL1_ENST00000357032.3_Silent_p.F442F|ATL1_ENST00000354525.4_Silent_p.F442F	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	442					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AAAATATCTTCCATGCAGCTC	0.428																																																	0								ENSG00000198513						204.0	174.0	184.0					14																	51094955		2203	4300	6503	ATL1	SO:0001819	synonymous_variant	0			-	HGNC	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1326C>T	14.37:g.51094955C>T		Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_P-loop_NTPase,superfamily_Guanylate-bd_C	p.F442	ENST00000358385.6	37	c.1326	CCDS9700.1	14																																																																																			-	superfamily_Guanylate-bd_C		0.428	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	protein_coding	OTTHUMT00000276884.2	C		-		51094955	+1	no_errors	ENST00000357032	ensembl	human	known	74_37	silent	SNP	1.000	T
MUC5B	727897	genome.wustl.edu	37	11	1262307	1262307	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:1262307T>G	ENST00000529681.1	+	31	4255	c.4197T>G	c.(4195-4197)tgT>tgG	p.C1399W	MUC5B_ENST00000447027.1_Missense_Mutation_p.C1402W|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1399	7 X Cys-rich subdomain repeats.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGTGGACTGTGACCGCATGC	0.652																																																	0								ENSG00000117983						26.0	33.0	31.0					11																	1262307		2134	4235	6369	MUC5B	SO:0001583	missense	0			-	HGNC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.4197T>G	11.37:g.1262307T>G	ENSP00000436812:p.Cys1399Trp	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.C1402W	ENST00000529681.1	37	c.4206	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	t	10.99	1.506678	0.26949	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.22336	1.96;1.96	4.39	-7.71	0.01254	.	.	.	.	.	T	0.48259	0.1490	M	0.90759	3.145	0.37052	D	0.897654	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70146	-0.4952	9	0.87932	D	0	.	15.7292	0.77788	0.0:0.2952:0.0:0.7048	.	2092;1402	A7Y9J9;E9PBJ0	.;.	W	1399;1402;1400;1469	ENSP00000436812:C1399W;ENSP00000415793:C1402W	ENSP00000343037:C1400W	C	+	3	2	MUC5B	1218883	0.000000	0.05858	0.000000	0.03702	0.188000	0.23474	-4.535000	0.00219	-1.549000	0.01710	0.255000	0.18592	TGT	-	NULL		0.652	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	T	XM_001126093	-		1262307	+1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.001	G
CCER1	196477	genome.wustl.edu	37	12	91348922	91348922	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:91348922G>A	ENST00000358859.2	-	0	31				CCER1_ENST00000548187.1_5'UTR	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1																		CTCAACCCAGGTGCTTCACTG	0.677																																																	0								ENSG00000197651																																			CCER1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.-403C>T	12.37:g.91348922G>A		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	Q8TC47	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000358859.2	37	NULL	CCDS9036.1	12																																																																																			-	-		0.677	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	protein_coding	OTTHUMT00000407142.2	G	NM_152638	-		91348922	-1	no_errors	ENST00000548187	ensembl	human	known	74_37	rna	SNP	0.966	A
THSD7A	221981	genome.wustl.edu	37	7	11676215	11676215	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:11676215G>A	ENST00000423059.4	-	2	815	c.564C>T	c.(562-564)ctC>ctT	p.L188L	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	188					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GGCAAGGAATGAGGCAAGCCT	0.552										HNSCC(18;0.044)																																							0								ENSG00000005108						72.0	70.0	70.0					7																	11676215		1999	4185	6184	THSD7A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.564C>T	7.37:g.11676215G>A		Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L188	ENST00000423059.4	37	c.564	CCDS47543.1	7																																																																																			-	NULL		0.552	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2	-		11676215	-1	no_errors	ENST00000423059	ensembl	human	known	74_37	silent	SNP	1.000	A
PSG5	5673	genome.wustl.edu	37	19	43679570	43679570	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:43679570C>T	ENST00000366175.3	-	4	891	c.761G>A	c.(760-762)gGa>gAa	p.G254E	PSG5_ENST00000342951.6_Missense_Mutation_p.G254E|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.G347E|PSG5_ENST00000404580.1_Missense_Mutation_p.G254E|PSG5_ENST00000407356.1_Missense_Mutation_p.G254E			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	254	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GAGGTTTTCTCCTGAACGGTA	0.478																																																	0								ENSG00000204941						153.0	166.0	162.0					19																	43679570		2203	4295	6498	PSG5	SO:0001583	missense	0			-	HGNC		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.761G>A	19.37:g.43679570C>T	ENSP00000382334:p.Gly254Glu	Somatic	0	137	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	60	25.00	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G254E	ENST00000366175.3	37	c.761	CCDS12617.1	19	.	.	.	.	.	.	.	.	.	.	c	11.61	1.690001	0.29962	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	D;D;D;T	0.85088	-1.94;-1.94;-1.94;1.92	1.25	1.25	0.21368	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90717	0.7087	M	0.85710	2.77	0.09310	N	0.999995	P;P	0.50369	0.934;0.747	D;P	0.66979	0.948;0.657	T	0.79607	-0.1733	9	0.54805	T	0.06	.	5.8107	0.18465	0.0:1.0:0.0:0.0	.	347;254	Q15228;Q15238	.;PSG5_HUMAN	E	254	ENSP00000382334:G254E;ENSP00000386008:G254E;ENSP00000344413:G254E;ENSP00000385250:G254E	ENSP00000344413:G254E	G	-	2	0	PSG5	48371410	0.003000	0.15002	0.005000	0.12908	0.027000	0.11550	0.258000	0.18387	0.644000	0.30656	0.184000	0.17185	GGA	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.478	PSG5-001	KNOWN	basic|CCDS	protein_coding	PSG5	protein_coding	OTTHUMT00000323055.1	C	NM_002781	-		43679570	-1	no_errors	ENST00000342951	ensembl	human	known	74_37	missense	SNP	0.004	T
TAAR2	9287	genome.wustl.edu	37	6	132938844	132938844	+	Silent	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:132938844A>G	ENST00000367931.1	-	2	500	c.501T>C	c.(499-501)tgT>tgC	p.C167C	TAAR2_ENST00000275191.2_Silent_p.C122C|TAAR2_ENST00000537809.1_Silent_p.C122C			Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	167					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GGACCGACCAACATAGAAGTA	0.423																																																	0								ENSG00000146378						60.0	60.0	60.0					6																	132938844		2203	4300	6503	TAAR2	SO:0001819	synonymous_variant	0			-	HGNC	AF112460	CCDS34541.1, CCDS5157.1	6q24	2012-08-08	2005-02-23	2005-02-24	ENSG00000146378	ENSG00000146378		"""GPCR / Class A : Trace amine associated receptors"""	4514	protein-coding gene	gene with protein product		604849	"""G protein-coupled receptor 58"""	GPR58		10684976, 15718104	Standard	NM_014626		Approved		uc003qdl.1	Q9P1P5	OTTHUMG00000015585	ENST00000367931.1:c.501T>C	6.37:g.132938844A>G		Somatic	0	17	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	3	70.00	Q5QD02|Q6NWS1|Q6NWS2|Q6NWS3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_TAAR_fam	p.C167	ENST00000367931.1	37	c.501	CCDS34541.1	6																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.423	TAAR2-002	KNOWN	basic|CCDS	protein_coding	TAAR2	protein_coding	OTTHUMT00000390735.1	A	NM_014626	-		132938844	-1	no_errors	ENST00000367931	ensembl	human	known	74_37	silent	SNP	0.999	G
GUCY1A3	2982	genome.wustl.edu	37	4	156638447	156638447	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:156638447C>T	ENST00000296518.7	+	8	1918	c.1709C>T	c.(1708-1710)cCt>cTt	p.P570L	GUCY1A3_ENST00000455639.2_Missense_Mutation_p.P570L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.P570L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.P570L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.P570L|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.P312L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.P570L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	570	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CATGGAGAACCTATCAAGGTA	0.428																																																	0								ENSG00000164116						101.0	93.0	96.0					4																	156638447		2203	4300	6503	GUCY1A3	SO:0001583	missense	0			-	HGNC		CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1709C>T	4.37:g.156638447C>T	ENSP00000296518:p.Pro570Leu	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	21	27.59	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.P570L	ENST00000296518.7	37	c.1709	CCDS34085.1	4	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637637	0.47049	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07;-2.07;-2.07	5.64	5.64	0.86602	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000007	D	0.85279	0.5660	M	0.83012	2.62	0.58432	D	0.99999	B;B	0.18610	0.029;0.029	B;B	0.23716	0.048;0.048	T	0.82804	-0.0276	10	0.62326	D	0.03	.	8.9284	0.35655	0.149:0.7769:0.0:0.0742	.	570;570	B3KU69;Q02108	.;GCYA3_HUMAN	L	570;570;570;570;312;570;570	ENSP00000424361:P570L;ENSP00000421493:P570L;ENSP00000426968:P570L;ENSP00000412201:P570L;ENSP00000377418:P312L;ENSP00000296518:P570L;ENSP00000426040:P570L	ENSP00000296518:P570L	P	+	2	0	GUCY1A3	156857897	0.978000	0.34361	0.964000	0.40570	0.990000	0.78478	2.498000	0.45363	2.646000	0.89796	0.655000	0.94253	CCT	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase		0.428	GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GUCY1A3	protein_coding	OTTHUMT00000365786.2	C		-		156638447	+1	no_errors	ENST00000296518	ensembl	human	known	74_37	missense	SNP	0.948	T
EVPL	2125	genome.wustl.edu	37	17	74019442	74019442	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:74019442G>A	ENST00000301607.3	-	4	664	c.411C>T	c.(409-411)taC>taT	p.Y137Y	EVPL_ENST00000586740.1_Silent_p.Y137Y	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	137	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCATCTTCTCGTACAGGGCAC	0.632																																																	0								ENSG00000167880						97.0	94.0	95.0					17																	74019442		2203	4300	6503	EVPL	SO:0001819	synonymous_variant	0			-	HGNC	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.411C>T	17.37:g.74019442G>A		Somatic	0	109	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	39	30.36	A0AUV5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.Y137	ENST00000301607.3	37	c.411	CCDS11737.1	17																																																																																			-	NULL		0.632	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	protein_coding	OTTHUMT00000449483.1	G	NM_001988	-		74019442	-1	no_errors	ENST00000301607	ensembl	human	known	74_37	silent	SNP	0.322	A
SLC22A2	6582	genome.wustl.edu	37	6	160668278	160668278	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:160668278C>T	ENST00000366953.3	-	5	1153	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	SLC22A2_ENST00000366952.1_Missense_Mutation_p.A278T|SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	299					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	ATTCTCATGGCTTCAGCATTC	0.493																																																	0								ENSG00000112499						145.0	130.0	135.0					6																	160668278		2203	4300	6503	SLC22A2	SO:0001583	missense	0			-	HGNC	X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.895G>A	6.37:g.160668278C>T	ENSP00000355920:p.Ala299Thr	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A299T	ENST00000366953.3	37	c.895	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644766	0.87859	.	.	ENSG00000112499	ENST00000366953;ENST00000366952	D;D	0.83250	-1.7;-1.7	5.2	4.33	0.51752	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.173687	0.50627	N	0.000102	D	0.90707	0.7084	M	0.90870	3.155	0.58432	D	0.999994	D;D	0.89917	0.999;1.0	D;D	0.73708	0.98;0.981	D	0.92390	0.5920	10	0.59425	D	0.04	.	14.0469	0.64710	0.0:0.9267:0.0:0.0733	.	299;299	O15244;O15244-2	S22A2_HUMAN;.	T	299;278	ENSP00000355920:A299T;ENSP00000355919:A278T	ENSP00000355919:A278T	A	-	1	0	SLC22A2	160588268	1.000000	0.71417	0.199000	0.23439	0.609000	0.37215	7.216000	0.77974	1.325000	0.45301	0.655000	0.94253	GCC	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.493	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	protein_coding	OTTHUMT00000042943.1	C	NM_003058	-		160668278	-1	no_errors	ENST00000366953	ensembl	human	known	74_37	missense	SNP	0.965	T
CBX4	8535	genome.wustl.edu	37	17	77808241	77808243	+	In_Frame_Del	DEL	GTG	GTG	-	rs3833850		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	GTG	GTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:77808241_77808243delGTG	ENST00000269397.4	-	5	1375_1377	c.1198_1200delCAC	c.(1198-1200)cacdel	p.H400del		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	400	His-rich.|Interaction with BMI1.|Poly-His.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCGACGGCgtggtggtggtgg	0.704																																																	0								ENSG00000141582																																			CBX4	SO:0001651	inframe_deletion	0				HGNC	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1198_1200delCAC	17.37:g.77808250_77808252delGTG	ENSP00000269397:p.His400del	Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	13	13.33	B1PJR7|Q6TPI8|Q96C04	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,prints_Chromo_dom_subgr,pfscan_Chromo_domain/shadow	p.H400in_frame_del	ENST00000269397.4	37	c.1200_1198	CCDS32758.1	17																																																																																			-	NULL		0.704	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX4	protein_coding	OTTHUMT00000318007.1	GTG	NM_003655			77808243	-1	no_errors	ENST00000269397	ensembl	human	known	74_37	in_frame_del	DEL	0.632:0.816:0.840	-
ANKRD36BP2	645784	genome.wustl.edu	37	2	89104315	89104315	+	RNA	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:89104315A>T	ENST00000393525.3	+	0	4789									ankyrin repeat domain 36B pseudogene 2																		GAAGTAGAAAATGCCATGATG	0.299																																																	0								ENSG00000230006																																			ANKRD36BP2			0			-	HGNC			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104315A>T		Somatic	0	116	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	76	18.28		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000393525.3	37	NULL		2																																																																																			-	-		0.299	ANKRD36BP2-003	KNOWN	basic	processed_transcript	ANKRD36BP2	pseudogene	OTTHUMT00000323523.1	A		-		89104315	+1	no_errors	ENST00000393515	ensembl	human	known	74_37	rna	SNP	0.123	T
QSOX2	169714	genome.wustl.edu	37	9	139113687	139113687	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139113687G>A	ENST00000358701.5	-	6	813	c.776C>T	c.(775-777)tCg>tTg	p.S259L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	259					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAGGTAACACGAAGGGACTGA	0.537																																																	0								ENSG00000165661						151.0	136.0	141.0					9																	139113687		2203	4300	6503	QSOX2	SO:0001583	missense	0			-	HGNC	AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.776C>T	9.37:g.139113687G>A	ENSP00000351536:p.Ser259Leu	Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold	p.S259L	ENST00000358701.5	37	c.776	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457901	0.43634	.	.	ENSG00000165661	ENST00000358701	T	0.19394	2.15	4.65	4.65	0.58169	.	0.269957	0.37348	N	0.002140	T	0.48840	0.1522	M	0.88181	2.935	0.49687	D	0.999815	D	0.76494	0.999	P	0.57776	0.827	T	0.61564	-0.7037	10	0.72032	D	0.01	-11.2387	16.9002	0.86110	0.0:0.0:1.0:0.0	.	259	Q6ZRP7	QSOX2_HUMAN	L	259	ENSP00000351536:S259L	ENSP00000351536:S259L	S	-	2	0	QSOX2	138253508	1.000000	0.71417	0.010000	0.14722	0.024000	0.10985	8.521000	0.90569	2.298000	0.77334	0.655000	0.94253	TCG	-	NULL		0.537	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	protein_coding	OTTHUMT00000055046.2	G	NM_181701	-		139113687	-1	no_errors	ENST00000358701	ensembl	human	known	74_37	missense	SNP	0.724	A
MTCL1	23255	genome.wustl.edu	37	18	8718544	8718544	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:8718544C>T	ENST00000306329.11	+	2	1176	c.1176C>T	c.(1174-1176)atC>atT	p.I392I	SOGA2_ENST00000359865.3_Silent_p.I32I|SOGA2_ENST00000400050.3_Silent_p.I32I|Y_RNA_ENST00000516510.1_RNA|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000517570.1_Silent_p.I32I																							ACTGCCGAATCCTGCAGTACC	0.507																																																	0								ENSG00000168502						108.0	98.0	101.0					18																	8718544		2203	4300	6503	SOGA2	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000306329.11:c.1176C>T	18.37:g.8718544C>T		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	25.00		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SOGA	p.I32	ENST00000306329.11	37	c.96		18																																																																																			-	NULL		0.507	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	SOGA2	protein_coding	OTTHUMT00000444141.1	C		-		8718544	+1	no_errors	ENST00000359865	ensembl	human	known	74_37	silent	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	128899448	128899448	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:128899448C>T	ENST00000435159.2	+	2	257	c.257C>T	c.(256-258)aCc>aTc	p.T86I		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	86						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						TCCTTCTTTACCTACAAAACC	0.527																																																	0								ENSG00000181234						100.0	86.0	90.0					12																	128899448		692	1591	2283	TMEM132C	SO:0001583	missense	0			-	HGNC	AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.257C>T	12.37:g.128899448C>T	ENSP00000410852:p.Thr86Ile	Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	Q69YX8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T86I	ENST00000435159.2	37	c.257		12	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.567579	0.00134	.	.	ENSG00000181234	ENST00000435159	T	0.11063	2.81	4.29	0.175	0.15045	.	.	.	.	.	T	0.02888	0.0086	N	0.01146	-0.985	0.19300	N	0.999973	.	.	.	.	.	.	T	0.45585	-0.9251	7	0.06757	T	0.87	.	8.648	0.34018	0.0:0.6126:0.0:0.3874	.	.	.	.	I	86	ENSP00000410852:T86I	ENSP00000410852:T86I	T	+	2	0	TMEM132C	127465401	0.010000	0.17322	0.045000	0.18777	0.025000	0.11179	1.868000	0.39509	-0.202000	0.10268	-0.140000	0.14226	ACC	-	NULL		0.527	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	protein_coding		C	XM_044062	-		128899448	+1	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	SNP	0.779	T
MACF1	23499	genome.wustl.edu	37	1	39905066	39905066	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:39905066T>A	ENST00000372915.3	+	71	18125	c.18038T>A	c.(18037-18039)aTg>aAg	p.M6013K	MACF1_ENST00000564288.1_Missense_Mutation_p.M6114K|MACF1_ENST00000361689.2_Missense_Mutation_p.M4055K|MACF1_ENST00000539005.1_Missense_Mutation_p.M3925K|MACF1_ENST00000317713.7_Missense_Mutation_p.M4055K|MACF1_ENST00000545844.1_Missense_Mutation_p.M4055K|MACF1_ENST00000289893.4_Missense_Mutation_p.M4557K|MACF1_ENST00000567887.1_Missense_Mutation_p.M6151K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6013					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGTATGACATGGCAGCTCTC	0.448																																																	0								ENSG00000127603						85.0	80.0	82.0					1																	39905066		2203	4300	6503	MACF1	SO:0001583	missense	0			-	HGNC	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.18038T>A	1.37:g.39905066T>A	ENSP00000362006:p.Met6013Lys	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	33	38.89	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.M4055K	ENST00000372915.3	37	c.12164		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.5|23.5	4.423751|4.423751	0.83667|0.83667	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	.|T;T;T;T;T;T	.|0.51574	.|0.7;0.7;0.7;0.7;0.7;0.7	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59018|0.59018	0.2163|0.2163	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|D;P	.|0.62365	.|0.991;0.916	.|D;P	.|0.63381	.|0.914;0.693	T|T	0.61322|0.61322	-0.7086|-0.7086	5|10	.|0.66056	.|D	.|0.02	.|.	16.086|16.086	0.81049|0.81049	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|6013;4055	.|Q9UPN3;F8W8Q1	.|MACF1_HUMAN;.	Q|K	3058|4055;6013;4055;4055;3925;4557	.|ENSP00000439537:M4055K;ENSP00000362006:M6013K;ENSP00000354573:M4055K;ENSP00000313438:M4055K;ENSP00000444364:M3925K;ENSP00000289893:M4557K	.|ENSP00000289893:M4557K	H|M	+|+	3|2	2|0	MACF1|MACF1	39677653|39677653	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.098000|5.098000	0.64548|0.64548	2.207000|2.207000	0.71202|0.71202	0.528000|0.528000	0.53228|0.53228	CAT|ATG	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.448	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	protein_coding	OTTHUMT00000392096.1	T	NM_033044	-		39905066	+1	no_errors	ENST00000317713	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF638	27332	genome.wustl.edu	37	2	71650322	71650322	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:71650322T>C	ENST00000409544.1	+	22	4308	c.3678T>C	c.(3676-3678)tcT>tcC	p.S1226S	ZNF638_ENST00000409407.1_Silent_p.S166S|ZNF638_ENST00000264447.4_Silent_p.S1226S|ZNF638_ENST00000355812.3_Intron	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1226	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGTTACCATCTGACAGTGTGT	0.388																																																	0								ENSG00000075292						79.0	80.0	80.0					2																	71650322		2203	4300	6503	ZNF638	SO:0001819	synonymous_variant	0			-	HGNC	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.3678T>C	2.37:g.71650322T>C		Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	20	35.48	B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.S1226	ENST00000409544.1	37	c.3678	CCDS1917.1	2																																																																																			-	NULL		0.388	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	protein_coding	OTTHUMT00000327431.1	T	NM_014497	-		71650322	+1	no_errors	ENST00000264447	ensembl	human	known	74_37	silent	SNP	0.017	C
USHBP1	83878	genome.wustl.edu	37	19	17362811	17362811	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17362811G>A	ENST00000252597.3	-	11	1881	c.1708C>T	c.(1708-1710)Cct>Tct	p.P570S	AC010646.3_ENST00000594059.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.P506S	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GTGCCACCAGGGACAGCAGGA	0.597																																																	0								ENSG00000130307						28.0	20.0	23.0					19																	17362811		2155	4176	6331	USHBP1	SO:0001583	missense	0			-	HGNC	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1708C>T	19.37:g.17362811G>A	ENSP00000252597:p.Pro570Ser	Somatic	0	92	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_USH1C-bd_PDZ_domain	p.P570S	ENST00000252597.3	37	c.1708	CCDS12353.1	19	.	.	.	.	.	.	.	.	.	.	G	4.085	0.013693	0.07959	.	.	ENSG00000130307	ENST00000252597;ENST00000431146	T;T	0.16597	2.33;2.33	2.91	0.767	0.18482	.	1.135970	0.06759	N	0.781453	T	0.10035	0.0246	L	0.36672	1.1	0.09310	N	1	B;B	0.33694	0.421;0.028	B;B	0.24701	0.055;0.007	T	0.29941	-0.9995	10	0.09590	T	0.72	0.0043	4.7376	0.12995	0.304:0.0:0.696:0.0	.	506;570	B4DUE8;Q8N6Y0	.;USBP1_HUMAN	S	570;506	ENSP00000252597:P570S;ENSP00000407902:P506S	ENSP00000252597:P570S	P	-	1	0	USHBP1	17223811	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	0.177000	0.16801	0.283000	0.22279	0.561000	0.74099	CCT	-	NULL		0.597	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	protein_coding	OTTHUMT00000463328.1	G	NM_031941	-		17362811	-1	no_errors	ENST00000252597	ensembl	human	known	74_37	missense	SNP	0.000	A
DYNC1H1	1778	genome.wustl.edu	37	14	102482702	102482702	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:102482702C>T	ENST00000360184.4	+	37	7654	c.7490C>T	c.(7489-7491)gCc>gTc	p.A2497V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2497					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGGTTTATGCCATACTCTGG	0.418																																																	0								ENSG00000197102						56.0	55.0	55.0					14																	102482702		2203	4300	6503	DYNC1H1	SO:0001583	missense	0			-	HGNC	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.7490C>T	14.37:g.102482702C>T	ENSP00000348965:p.Ala2497Val	Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.A2497V	ENST00000360184.4	37	c.7490	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493733	0.84962	.	.	ENSG00000197102	ENST00000360184	T	0.18016	2.24	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.26376	0.0644	M	0.72479	2.2	0.80722	D	1	P	0.41313	0.745	B	0.38562	0.276	T	0.05733	-1.0867	10	0.87932	D	0	.	19.8311	0.96636	0.0:1.0:0.0:0.0	.	2497	Q14204	DYHC1_HUMAN	V	2497	ENSP00000348965:A2497V	ENSP00000348965:A2497V	A	+	2	0	DYNC1H1	101552455	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.308000	0.78929	2.768000	0.95171	0.561000	0.74099	GCC	-	NULL		0.418	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	protein_coding	OTTHUMT00000414574.1	C	NM_001376	-		102482702	+1	no_errors	ENST00000360184	ensembl	human	known	74_37	missense	SNP	1.000	T
ADAMTS17	170691	genome.wustl.edu	37	15	100672345	100672345	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:100672345C>T	ENST00000268070.4	-	12	1693	c.1588G>A	c.(1588-1590)Ggg>Agg	p.G530R	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	530	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		ACGCACTCCCCCGCGCGGCAC	0.687											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000140470						21.0	23.0	22.0					15																	100672345		2203	4299	6502	ADAMTS17	SO:0001583	missense	0			-	HGNC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1588G>A	15.37:g.100672345C>T	ENSP00000268070:p.Gly530Arg	Somatic	0	117	0.00	1353	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	54	20.59	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G530R	ENST00000268070.4	37	c.1588	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364725	0.61513	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	T	0.70399	-0.48	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.80849	0.4702	M	0.84683	2.71	0.80722	D	1	P;P	0.45126	0.851;0.618	P;B	0.48270	0.572;0.142	D	0.84098	0.0394	10	0.59425	D	0.04	.	18.8106	0.92056	0.0:1.0:0.0:0.0	.	287;530	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	R	530;287	ENSP00000268070:G530R	ENSP00000268070:G530R	G	-	1	0	ADAMTS17	98489868	1.000000	0.71417	0.897000	0.35233	0.495000	0.33615	7.194000	0.77789	2.423000	0.82170	0.561000	0.74099	GGG	-	smart_ADAM_Cys-rich		0.687	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	C	NM_139057	-		100672345	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF433	163059	genome.wustl.edu	37	19	12129029	12129029	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:12129029G>A	ENST00000344980.6	-	2	261	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_3'UTR|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_5'UTR|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	31	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCTCTACAGAGATTTTTCTGG	0.438																																																	0								ENSG00000197647						68.0	72.0	70.0					19																	12129029		2199	4299	6498	ZNF433	SO:0001583	missense	0			-	HGNC	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.91C>T	19.37:g.12129029G>A	ENSP00000339767:p.Leu31Phe	Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	42	31.15	Q86VX3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L31F	ENST00000344980.6	37	c.91	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550522	0.65311	.	.	ENSG00000197647	ENST00000344980;ENST00000550507;ENST00000455504;ENST00000478765;ENST00000550745;ENST00000411841	T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63	1.03	1.03	0.20045	Krueppel-associated box (4);	.	.	.	.	T	0.26593	0.0650	H	0.96175	3.78	0.26837	N	0.968469	D	0.76494	0.999	D	0.83275	0.996	T	0.04307	-1.0961	9	0.62326	D	0.03	.	5.4574	0.16598	0.0:0.0:1.0:0.0	.	31	Q8N7K0	ZN433_HUMAN	F	31;28;42;42;30;70	ENSP00000339767:L31F;ENSP00000448099:L28F;ENSP00000414857:L42F;ENSP00000447951:L42F;ENSP00000447205:L30F;ENSP00000407475:L70F	ENSP00000339767:L31F	L	-	1	0	ZNF433	11990029	0.195000	0.23338	0.524000	0.27887	0.822000	0.46500	0.605000	0.24179	0.851000	0.35264	0.306000	0.20318	CTC	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.438	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	protein_coding	OTTHUMT00000403716.1	G	NM_152602	-		12129029	-1	no_errors	ENST00000344980	ensembl	human	known	74_37	missense	SNP	0.850	A
TUBA3C	7278	genome.wustl.edu	37	13	19751361	19751361	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:19751361T>A	ENST00000400113.3	-	4	866	c.762A>T	c.(760-762)gaA>gaT	p.E254D		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	254					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGTCTGGAATTCCGTCAAGT	0.617																																																	0								ENSG00000198033						147.0	131.0	136.0					13																	19751361		2203	4300	6503	TUBA3C	SO:0001583	missense	0			-	HGNC	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.762A>T	13.37:g.19751361T>A	ENSP00000382982:p.Glu254Asp	Somatic	0	128	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	A6NJQ0|Q5W099|Q6PEY3|Q96F18	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.E254D	ENST00000400113.3	37	c.762	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	t	3.462	-0.109716	0.06924	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	D	0.85411	-1.98	1.19	-2.38	0.06622	.	0.000000	0.47852	U	0.000220	T	0.80319	0.4601	.	.	.	0.31205	N	0.699261	.	.	.	.	.	.	T	0.74509	-0.3642	7	0.87932	D	0	.	3.1556	0.06503	0.0:0.3014:0.2226:0.4759	.	.	.	.	D	254	ENSP00000382982:E254D	ENSP00000354037:E254D	E	-	3	2	TUBA3C	18649361	0.144000	0.22641	0.936000	0.37596	0.267000	0.26476	-0.689000	0.05144	-1.099000	0.03034	0.147000	0.16070	GAA	-	superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin		0.617	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	protein_coding	OTTHUMT00000044007.2	T	NM_006001	-		19751361	-1	no_errors	ENST00000400113	ensembl	human	known	74_37	missense	SNP	1.000	A
TCTE1	202500	genome.wustl.edu	37	6	44253992	44253992	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:44253992C>T	ENST00000371505.4	-	3	677	c.555G>A	c.(553-555)cgG>cgA	p.R185R	TCTE1_ENST00000371503.3_Silent_p.R32R|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Silent_p.R32R	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	185										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCACGTAATTCCGGCAGAGCG	0.647																																																	0								ENSG00000146221						41.0	38.0	39.0					6																	44253992		2202	4300	6502	TCTE1	SO:0001819	synonymous_variant	0			-	HGNC	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.555G>A	6.37:g.44253992C>T		Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	18	53.85	B4DX59|Q8IYS6	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R185	ENST00000371505.4	37	c.555	CCDS4910.1	6																																																																																			-	NULL		0.647	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTE1	protein_coding	OTTHUMT00000040736.1	C	NM_182539	-		44253992	-1	no_errors	ENST00000371505	ensembl	human	known	74_37	silent	SNP	0.030	T
GOLGA6D	653643	genome.wustl.edu	37	15	75585481	75585481	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:75585481G>A	ENST00000434739.3	+	14	1610	c.1569G>A	c.(1567-1569)gaG>gaA	p.E523E	RN7SL327P_ENST00000488659.2_RNA	NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	523						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						ACATCCCAGAGGACCTGGAGA	0.627																																																	0								ENSG00000140478						1.0	1.0	1.0					15																	75585481		29	347	376	GOLGA6D	SO:0001819	synonymous_variant	0			-	HGNC		CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.1569G>A	15.37:g.75585481G>A		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	44	10.20		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E523	ENST00000434739.3	37	c.1569	CCDS45308.1	15																																																																																			-	NULL		0.627	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	protein_coding	OTTHUMT00000419798.1	G	NM_001145224	-		75585481	+1	no_errors	ENST00000434739	ensembl	human	known	74_37	silent	SNP	0.998	A
ZFP36	7538	genome.wustl.edu	37	19	39897708	39897708	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:39897708G>A	ENST00000248673.3	+	1	82				ZFP36_ENST00000594045.1_Nonsense_Mutation_p.W61*|MIR4530_ENST00000581459.1_RNA|ZFP36_ENST00000597629.1_Intron	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein						3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCTCCAGCCTGGGGCCCCTGC	0.667																																					NSCLC(67;1164 1324 12056 21056 30097)												0								ENSG00000128016																																			ZFP36	SO:0001627	intron_variant	0			-	HGNC	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.24+140G>A	19.37:g.39897708G>A		Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	7	46.15	B2RA54	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.W61*	ENST00000248673.3	37	c.182		19																																																																																			-	NULL		0.667	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	ZFP36	protein_coding		G		-		39897708	+1	no_errors	ENST00000594045	ensembl	human	putative	74_37	nonsense	SNP	0.003	A
ADCK1	57143	genome.wustl.edu	37	14	78353483	78353483	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:78353483C>T	ENST00000238561.5	+	5	572	c.473C>T	c.(472-474)tCc>tTc	p.S158F	ADCK1_ENST00000341211.5_Missense_Mutation_p.S90F	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	165	Protein kinase.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGACGGCCTCCCTGGCCCAG	0.582																																																	0								ENSG00000063761						100.0	98.0	99.0					14																	78353483		2203	4300	6503	ADCK1	SO:0001583	missense	0			-	HGNC	AK096919	CCDS9869.1, CCDS45144.1	14q24	2005-10-30							19038	protein-coding gene	gene with protein product						12471243	Standard	NM_020421		Approved	FLJ39600	uc001xui.3	Q86TW2		ENST00000238561.5:c.473C>T	14.37:g.78353483C>T	ENSP00000238561:p.Ser158Phe	Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	27	15.62	B3KUD5|Q6PD65|Q9UIE6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom	p.S158F	ENST00000238561.5	37	c.473	CCDS9869.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.422080	0.96111	.	.	ENSG00000063761	ENST00000238561;ENST00000557501;ENST00000341211	T;T;T	0.80738	-1.41;-1.41;-1.41	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97226	0.9881	10	0.87932	D	0	-1.9553	20.3409	0.98764	0.0:1.0:0.0:0.0	.	90;158	Q9UIE6;Q86TW2-2	.;.	F	158;158;90	ENSP00000238561:S158F;ENSP00000451549:S158F;ENSP00000339663:S90F	ENSP00000238561:S158F	S	+	2	0	ADCK1	77423236	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.061000	0.71148	2.814000	0.96858	0.655000	0.94253	TCC	-	pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom		0.582	ADCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK1	protein_coding	OTTHUMT00000413864.1	C	NM_020421	-		78353483	+1	no_errors	ENST00000238561	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC15A2	6565	genome.wustl.edu	37	3	121634085	121634085	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:121634085G>A	ENST00000489711.1	+	6	928	c.540G>A	c.(538-540)cgG>cgA	p.R180R	SLC15A2_ENST00000295605.2_Silent_p.R149R	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	180					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAGAGGAACGGACTAGATACT	0.468																																																	0								ENSG00000163406						178.0	154.0	162.0					3																	121634085		2203	4300	6503	SLC15A2	SO:0001819	synonymous_variant	0			-	HGNC	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.540G>A	3.37:g.121634085G>A		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	A8K1A5|B4E2A7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.R180	ENST00000489711.1	37	c.540	CCDS3007.1	3																																																																																			-	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport		0.468	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	protein_coding	OTTHUMT00000355239.1	G	NM_021082	-		121634085	+1	no_errors	ENST00000489711	ensembl	human	known	74_37	silent	SNP	0.877	A
SRCIN1	80725	genome.wustl.edu	37	17	36699353	36699353	+	5'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:36699353C>T	ENST00000398579.4	-	0	3390				SRCIN1_ENST00000578925.1_Intron|SRCIN1_ENST00000264659.7_Intron			Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1						exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CACACAGCCTCCGCGCCTGCT	0.602																																																	0								ENSG00000017373																																			SRCIN1	SO:0001623	5_prime_UTR_variant	0			-	HGNC		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000398579.4:c.-1835G>A	17.37:g.36699353C>T		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	Q75T46|Q8N4W8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000398579.4	37	NULL		17																																																																																			-	-		0.602	SRCIN1-004	KNOWN	NAGNAG_splice_site|basic	processed_transcript	SRCIN1	protein_coding	OTTHUMT00000442338.1	C	NM_025248	-		36699353	-1	no_errors	ENST00000398579	ensembl	human	known	74_37	rna	SNP	0.002	T
PLCB1	23236	genome.wustl.edu	37	20	8626812	8626812	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:8626812G>A	ENST00000338037.6	+	5	475	c.448G>A	c.(448-450)Gca>Aca	p.A150T	PLCB1_ENST00000378641.3_Missense_Mutation_p.A150T|PLCB1_ENST00000378637.2_Missense_Mutation_p.A150T	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	150					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTCCAGGGATGCATTTCTGGA	0.398																																																	0								ENSG00000182621						124.0	120.0	121.0					20																	8626812		2203	4300	6503	PLCB1	SO:0001583	missense	0			-	HGNC	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.448G>A	20.37:g.8626812G>A	ENSP00000338185:p.Ala150Thr	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A150T	ENST00000338037.6	37	c.448	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	G	7.796	0.712514	0.15306	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	6.07	6.07	0.98685	.	0.051659	0.85682	D	0.000000	T	0.27866	0.0686	N	0.00742	-1.23	0.49130	D	0.999759	B;B;B;D	0.65815	0.002;0.001;0.022;0.995	B;B;B;P	0.59643	0.007;0.003;0.012;0.861	T	0.40251	-0.9573	10	0.02654	T	1	.	20.2389	0.98366	0.0:0.0:1.0:0.0	.	49;150;150;149	B4DRC6;Q9NQ66;Q9NQ66-2;B1AK73	.;PLCB1_HUMAN;.;.	T	150;150;150;149;70;70	ENSP00000367908:A150T;ENSP00000338185:A150T;ENSP00000367904:A150T;ENSP00000384001:A149T	ENSP00000338185:A150T	A	+	1	0	PLCB1	8574812	1.000000	0.71417	0.976000	0.42696	0.982000	0.71751	3.943000	0.56621	2.890000	0.99128	0.650000	0.86243	GCA	-	pirsf_PLC-beta		0.398	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	protein_coding	OTTHUMT00000077938.3	G		-		8626812	+1	no_errors	ENST00000338037	ensembl	human	known	74_37	missense	SNP	0.993	A
LOC100631378	100631378	genome.wustl.edu	37	19	38322493	38322493	+	lincRNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:38322493C>T	ENST00000443870.1	+	0	2303				AC016582.2_ENST00000592640.1_lincRNA																							CTCTACCATTCCTTTCATTTC	0.453																																																	0								ENSG00000229481																																			CTD-2554C21.3			0			-	Clone_based_vega_gene																													19.37:g.38322493C>T		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			-	-		0.453	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	lincRNA	OTTHUMT00000459795.1	C		-		38322493	+1	no_errors	ENST00000443870	ensembl	human	known	74_37	rna	SNP	0.000	T
SEL1L2	80343	genome.wustl.edu	37	20	13830077	13830077	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:13830077G>A	ENST00000284951.5	-	0	2195				SEL1L2_ENST00000378072.5_3'UTR|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TATTTAGTGGGGATACCTTGG	0.488																																																	0								ENSG00000101251																																			SEL1L2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.*54C>T	20.37:g.13830077G>A		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	41	31.67	B4DXX5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000284951.5	37	NULL		20																																																																																			-	-		0.488	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	SEL1L2	protein_coding	OTTHUMT00000078067.3	G	NM_025229	-		13830077	-1	no_errors	ENST00000482196	ensembl	human	known	74_37	rna	SNP	0.005	A
GPR144	347088	genome.wustl.edu	37	9	127217163	127217163	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:127217163C>T	ENST00000334810.1	+	7	1206	c.1206C>T	c.(1204-1206)tcC>tcT	p.S402S				Q7Z7M1	GP144_HUMAN	G protein-coupled receptor 144	402					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)	4						GGGCCCTGTCCCCAGCGGAGG	0.667																																																	0								ENSG00000180264						14.0	17.0	16.0					9																	127217163		692	1590	2282	GPR144	SO:0001819	synonymous_variant	0			-	HGNC	AY278562		9q34.11	2014-08-08			ENSG00000180264	ENSG00000180264		"""-"", ""GPCR / Class B : Orphans"""	18651	protein-coding gene	gene with protein product							Standard	XM_006710216		Approved	PGR24	uc010mwn.3	Q7Z7M1	OTTHUMG00000020652	ENST00000334810.1:c.1206C>T	9.37:g.127217163C>T		Somatic	1	190	0.52		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	94	16.07	Q86SL4|Q8NH12	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_Pentaxin,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_C-type_lectin_fold,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_Pentaxin,prints_GPCR_2_secretin-like	p.S402	ENST00000334810.1	37	c.1206	CCDS48016.1	9																																																																																			-	NULL		0.667	GPR144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR144	protein_coding	OTTHUMT00000054026.2	C	NM_182611	-		127217163	+1	no_errors	ENST00000334810	ensembl	human	known	74_37	silent	SNP	0.020	T
BCL2L12	83596	genome.wustl.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50169132C>T	ENST00000246785.3	+	1	310	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_ENST00000601291.1_5'Flank|IRF3_ENST00000600911.1_5'Flank|IRF3_ENST00000596765.1_5'Flank|IRF3_ENST00000309877.7_5'Flank|IRF3_ENST00000599144.1_5'Flank|IRF3_ENST00000442265.2_5'Flank|BCL2L12_ENST00000246784.3_Missense_Mutation_p.R18W|IRF3_ENST00000593922.1_5'Flank|IRF3_ENST00000596822.1_5'Flank|IRF3_ENST00000377135.4_5'Flank|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R18W|IRF3_ENST00000598808.1_5'Flank|IRF3_ENST00000377139.3_5'UTR|IRF3_ENST00000599223.1_5'Flank|IRF3_ENST00000597198.1_5'Flank|IRF3_ENST00000600022.1_5'Flank	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	18					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577																																																	0								ENSG00000126453						42.0	46.0	44.0					19																	50169132		2203	4300	6503	BCL2L12	SO:0001583	missense	0			-	HGNC	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.52C>T	19.37:g.50169132C>T	ENSP00000246785:p.Arg18Trp	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	30	26.83	Q3SY11|Q3SY13|Q96I96|Q9HB08	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R18W	ENST00000246785.3	37	c.52	CCDS12776.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.484360	0.96307	.	.	ENSG00000126453	ENST00000246785;ENST00000441864;ENST00000246784	T;T;T	0.58210	0.59;0.59;0.35	3.62	3.62	0.41486	.	0.000000	0.31747	U	0.007128	T	0.44350	0.1289	N	0.08118	0	0.28648	N	0.906817	D;D	0.76494	0.999;0.999	P;P	0.56343	0.796;0.796	T	0.41179	-0.9523	10	0.87932	D	0	-7.1943	11.0583	0.47931	0.0:1.0:0.0:0.0	.	18;18	Q3SY13;Q9HB09	.;B2L12_HUMAN	W	18	ENSP00000246785:R18W;ENSP00000393803:R18W;ENSP00000246784:R18W	ENSP00000246784:R18W	R	+	1	2	BCL2L12	54860944	0.918000	0.31147	0.874000	0.34290	0.973000	0.67179	1.200000	0.32247	2.344000	0.79699	0.467000	0.42956	CGG	-	NULL		0.577	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCL2L12	protein_coding	OTTHUMT00000465770.1	C	NM_052842	-		50169132	+1	no_errors	ENST00000246785	ensembl	human	known	74_37	missense	SNP	0.868	T
HERC2P2	400322	genome.wustl.edu	37	15	23285311	23285311	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:23285311C>T	ENST00000560464.1	-	0	5097									hect domain and RLD 2 pseudogene 2																		TGGTATTTTCCTGGGGTGATG	0.483																																																	0								ENSG00000140181																																			HERC2P2			0			-	HGNC	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23285311C>T		Somatic	0	22	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	14	48.15		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			-	-		0.483	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	pseudogene	OTTHUMT00000415936.1	C		-		23285311	-1	no_errors	ENST00000558398	ensembl	human	known	74_37	rna	SNP	1.000	T
CX3CR1	1524	genome.wustl.edu	37	3	39307107	39307107	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:39307107C>T	ENST00000541347.1	-	2	1133	c.894G>A	c.(892-894)gaG>gaA	p.E298E	CX3CR1_ENST00000358309.3_Silent_p.E330E|CX3CR1_ENST00000399220.2_Silent_p.E298E|CX3CR1_ENST00000542107.1_Silent_p.E298E	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	298					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cerebral cortex cell migration (GO:0021795)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|macrophage chemotaxis (GO:0048246)|microglial cell activation involved in immune response (GO:0002282)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of angiogenesis (GO:0045766)|response to wounding (GO:0009611)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|neuronal cell body membrane (GO:0032809)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	C-X3-C chemokine receptor activity (GO:0016495)|chemokine receptor activity (GO:0004950)			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTCTGAACTTCTCCCCAGCAA	0.498																																																	0								ENSG00000168329						127.0	128.0	128.0					3																	39307107		1972	4162	6134	CX3CR1	SO:0001819	synonymous_variant	0			-	HGNC	BC028078	CCDS43069.1, CCDS54571.1	3p21.3	2012-08-08	2002-08-22		ENSG00000168329	ENSG00000168329		"""GPCR / Class A : Chemokine receptors : C-X-3-C motif"""	2558	protein-coding gene	gene with protein product		601470	"""chemokine (C-X3-C) receptor 1"""	GPR13, CMKBRL1		9726990, 7646814	Standard	NM_001171171		Approved	CMKDR1, V28, CCRL1	uc021wwc.1	P49238	OTTHUMG00000156249	ENST00000541347.1:c.894G>A	3.37:g.39307107C>T		Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	32	39.62	A0N0N6|B2R5Z4|J3KP17	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4	p.E330	ENST00000541347.1	37	c.990	CCDS43069.1	3																																																																																			-	prints_GPCR_Rhodpsn,prints_Chemokine_rcpt		0.498	CX3CR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CR1	protein_coding	OTTHUMT00000343613.1	C	NM_001337	-		39307107	-1	no_errors	ENST00000358309	ensembl	human	known	74_37	silent	SNP	0.990	T
OR5A2	219981	genome.wustl.edu	37	11	59189645	59189645	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:59189645A>T	ENST00000302040.4	-	1	804	c.782T>A	c.(781-783)aTg>aAg	p.M261K		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						ACTGGGTCGCATGTACATGAA	0.498																																																	0								ENSG00000172324						94.0	90.0	91.0					11																	59189645		2201	4295	6496	OR5A2	SO:0001583	missense	0			-	HGNC	AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.782T>A	11.37:g.59189645A>T	ENSP00000303834:p.Met261Lys	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M261K	ENST00000302040.4	37	c.782	CCDS31560.1	11	.	.	.	.	.	.	.	.	.	.	A	27.5	4.839159	0.91117	.	.	ENSG00000172324	ENST00000302040	T	0.37411	1.2	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42294	U	0.000722	T	0.55210	0.1906	M	0.86953	2.85	0.09310	N	1	P	0.41624	0.757	P	0.48524	0.58	T	0.58808	-0.7571	10	0.87932	D	0	.	13.9585	0.64164	1.0:0.0:0.0:0.0	.	261	Q8NGI9	OR5A2_HUMAN	K	261	ENSP00000303834:M261K	ENSP00000303834:M261K	M	-	2	0	OR5A2	58946221	0.064000	0.20934	0.026000	0.17262	0.983000	0.72400	2.462000	0.45049	2.249000	0.74217	0.528000	0.53228	ATG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	protein_coding	OTTHUMT00000394552.1	A	NM_001001954	-		59189645	-1	no_errors	ENST00000302040	ensembl	human	known	74_37	missense	SNP	0.069	T
NLN	57486	genome.wustl.edu	37	5	65118981	65118981	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:65118981C>T	ENST00000380985.5	+	0	2531				NLN_ENST00000502464.1_3'UTR|NLN_ENST00000515595.1_3'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)							mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		GATTTGATTTCTTTTTATGAA	0.219																																																	0								ENSG00000123213																																			NLN	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.*238C>T	5.37:g.65118981C>T		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	23	34.29	Q9ULJ4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000380985.5	37	NULL	CCDS3989.1	5																																																																																			-	-		0.219	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLN	protein_coding	OTTHUMT00000215060.1	C		-		65118981	+1	no_errors	ENST00000515595	ensembl	human	putative	74_37	rna	SNP	0.324	T
MYO9B	4650	genome.wustl.edu	37	19	17306023	17306023	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17306023C>T	ENST00000594824.1	+	22	3934	c.3787C>T	c.(3787-3789)Ccg>Tcg	p.P1263S	MYO9B_ENST00000595618.1_Missense_Mutation_p.P1263S|MYO9B_ENST00000397274.2_Missense_Mutation_p.P1263S			Q13459	MYO9B_HUMAN	myosin IXB	1263	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GGTCAGCCCACCGGCCCCTGG	0.682																																																	0								ENSG00000099331						13.0	18.0	17.0					19																	17306023		1880	4095	5975	MYO9B	SO:0001583	missense	0			-	HGNC		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.3787C>T	19.37:g.17306023C>T	ENSP00000471367:p.Pro1263Ser	Somatic	0	208	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.P1263S	ENST00000594824.1	37	c.3787		19	.	.	.	.	.	.	.	.	.	.	C	5.694	0.312629	0.10789	.	.	ENSG00000099331	ENST00000397274	D	0.83419	-1.72	3.92	1.67	0.24075	.	1.567800	0.04023	N	0.300069	T	0.75228	0.3821	L	0.40543	1.245	0.09310	N	1	B;B;B	0.25007	0.116;0.116;0.094	B;B;B	0.16722	0.014;0.014;0.016	T	0.55263	-0.8168	10	0.21014	T	0.42	.	6.954	0.24560	0.0:0.655:0.2331:0.1119	.	1263;1263;1269	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	S	1263	ENSP00000380444:P1263S	ENSP00000380444:P1263S	P	+	1	0	MYO9B	17167023	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-0.056000	0.11787	0.381000	0.24851	0.561000	0.74099	CCG	-	NULL		0.682	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	protein_coding	OTTHUMT00000463236.1	C		-		17306023	+1	no_errors	ENST00000594824	ensembl	human	known	74_37	missense	SNP	0.001	T
CD1B	910	genome.wustl.edu	37	1	158299203	158299203	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:158299203C>T	ENST00000368168.3	-	4	950	c.843G>A	c.(841-843)gtG>gtA	p.V281V		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	281	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGCTGTGCTTCACCCGACAGG	0.557																																																	0								ENSG00000158485						87.0	83.0	84.0					1																	158299203		2203	4300	6503	CD1B	SO:0001819	synonymous_variant	0			-	HGNC	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.843G>A	1.37:g.158299203C>T		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	34	27.66	Q5TDK9|Q5TDL0|Q9UMM2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.V281	ENST00000368168.3	37	c.843	CCDS1176.1	1																																																																																			-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.557	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1B	protein_coding	OTTHUMT00000046350.2	C	NM_001764	-		158299203	-1	no_errors	ENST00000368168	ensembl	human	known	74_37	silent	SNP	0.957	T
MED20	9477	genome.wustl.edu	37	6	41874815	41874815	+	Missense_Mutation	SNP	G	G	A	rs144169919	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:41874815G>A	ENST00000265350.4	-	4	714	c.634C>T	c.(634-636)Cgt>Tgt	p.R212C	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	212					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CATCACTAACGAATCCCAGCC	0.582																																																	0								ENSG00000124641	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	58.0	51.0	54.0		634	5.4	1.0	6	dbSNP_134	54	2,8598	2.2+/-6.3	0,2,4298	yes	missense	MED20	NM_004275.3	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	212/213	41874815	3,13003	2203	4300	6503	MED20	SO:0001583	missense	0			-	HGNC	AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.634C>T	6.37:g.41874815G>A	ENSP00000265350:p.Arg212Cys	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Mediator_Med20	p.R212C	ENST00000265350.4	37	c.634	CCDS4862.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172939	0.78452	2.27E-4	2.33E-4	ENSG00000124641	ENST00000265350	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.66025	0.2748	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.68808	-0.5311	9	0.87932	D	0	-15.7335	11.8849	0.52596	0.0:0.0:0.718:0.282	.	212	Q9H944	MED20_HUMAN	C	212	.	ENSP00000265350:R212C	R	-	1	0	MED20	41982793	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.926000	0.56491	2.814000	0.96858	0.655000	0.94253	CGT	-	NULL		0.582	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	protein_coding	OTTHUMT00000040539.1	G	NM_004275	rs144169919		41874815	-1	no_errors	ENST00000265350	ensembl	human	known	74_37	missense	SNP	1.000	A
KRT76	51350	genome.wustl.edu	37	12	53169174	53169174	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:53169174C>T	ENST00000332411.2	-	2	866	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	271	Coil 1B.|Rod.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCCTCACTTCTTTTTGAAGT	0.517																																																	0								ENSG00000185069						99.0	103.0	102.0					12																	53169174		2203	4300	6503	KRT76	SO:0001819	synonymous_variant	0			-	HGNC	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.813G>A	12.37:g.53169174C>T		Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	B4DRR3|Q7Z795	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I	p.K271	ENST00000332411.2	37	c.813	CCDS8838.1	12																																																																																			-	pfam_IF,prints_Keratin_II,prints_Keratin_I		0.517	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT76	protein_coding	OTTHUMT00000405928.1	C	NM_015848	-		53169174	-1	no_errors	ENST00000332411	ensembl	human	known	74_37	silent	SNP	0.480	T
FREM3	166752	genome.wustl.edu	37	4	144532532	144532532	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:144532532C>T	ENST00000329798.5	-	6	5927	c.5928G>A	c.(5926-5928)gaG>gaA	p.E1976E	FREM3_ENST00000508899.1_5'UTR	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1976	Calx-beta 2.				cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						AGGATTCCTCCTCTTCATAAA	0.507																																																	0								ENSG00000183090						224.0	181.0	194.0					4																	144532532		692	1591	2283	FREM3	SO:0001819	synonymous_variant	0			-	HGNC	BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.5928G>A	4.37:g.144532532C>T		Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E1976	ENST00000329798.5	37	c.5928	CCDS54808.1	4																																																																																			-	pfam_Calx_beta,smart_Calx_beta		0.507	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	protein_coding	OTTHUMT00000365391.1	C	XM_094074	-		144532532	-1	no_errors	ENST00000329798	ensembl	human	putative	74_37	silent	SNP	0.936	T
PRSS1	5644	genome.wustl.edu	37	7	142458940	142458940	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:142458940C>T	ENST00000311737.7	+	2	206				PRSS1_ENST00000486171.1_Missense_Mutation_p.S74L	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)						cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	tcaaaattttcaggAAGAGGG	0.388																																																	0								ENSG00000204983																																			PRSS1	SO:0001627	intron_variant	0			-	HGNC	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.200+375C>T	7.37:g.142458940C>T		Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.S74L	ENST00000311737.7	37	c.221	CCDS5872.1	7	.	.	.	.	.	.	.	.	.	.	C	12.45	1.942218	0.34283	.	.	ENSG00000204983	ENST00000486171	D	0.88975	-2.45	1.39	-1.14	0.09741	.	.	.	.	.	T	0.74053	0.3666	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.59231	-0.7493	6	0.16420	T	0.52	.	1.6903	0.02850	0.3236:0.4113:0.0:0.2651	.	.	.	.	L	74	ENSP00000417854:S74L	ENSP00000417854:S74L	S	+	2	0	PRSS1	142138514	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.181000	0.16880	-0.346000	0.08312	0.398000	0.26397	TCA	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1		0.388	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	protein_coding	OTTHUMT00000352538.2	C		-		142458940	+1	no_errors	ENST00000486171	ensembl	human	novel	74_37	missense	SNP	0.001	T
FCER2	2208	genome.wustl.edu	37	19	7763242	7763242	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:7763242C>T	ENST00000346664.5	-	4	402	c.190G>A	c.(190-192)Gtc>Atc	p.V64I	FCER2_ENST00000360067.4_Splice_Site_p.V63I|FCER2_ENST00000597921.1_Splice_Site_p.V64I	NM_001220500.1|NM_002002.4	NP_001207429.1|NP_001993.2	P06734	FCER2_HUMAN	Fc fragment of IgE, low affinity II, receptor for (CD23)	64					Notch signaling pathway (GO:0007219)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CCCTTCATACCGTTCCGGGCA	0.612																																																	0								ENSG00000104921						91.0	70.0	77.0					19																	7763242		2203	4300	6503	FCER2	SO:0001630	splice_region_variant	0			-	HGNC	M15059	CCDS12184.1	19p13.3	2011-08-30	2006-03-09			ENSG00000104921		"""C-type lectin domain containing"", ""CD molecules"""	3612	protein-coding gene	gene with protein product		151445	"""Fc fragment of IgE, low affinity II, receptor for (CD23A)"""	CD23A, FCE2			Standard	NM_002002		Approved	CLEC4J, CD23	uc002mhm.2	P06734		ENST00000346664.5:c.190+1G>A	19.37:g.7763242C>T		Somatic	0	120	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	58	29.76		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.V64I	ENST00000346664.5	37	c.190	CCDS12184.1	19	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286637	0.40494	.	.	ENSG00000104921	ENST00000346664;ENST00000360067	T;T	0.02682	4.2;4.27	4.24	4.24	0.50183	.	0.000000	0.33309	N	0.005055	T	0.09862	0.0242	L	0.50333	1.59	0.29639	N	0.844845	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.988	T	0.00742	-1.1585	9	.	.	.	.	12.4357	0.55598	0.0:1.0:0.0:0.0	.	63;64	P06734-2;P06734	.;FCER2_HUMAN	I	64;63	ENSP00000264072:V64I;ENSP00000353178:V63I	.	V	-	1	0	FCER2	7669242	0.915000	0.31059	0.946000	0.38457	0.125000	0.20455	1.742000	0.38248	2.650000	0.89964	0.655000	0.94253	GTC	-	NULL		0.612	FCER2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCER2	protein_coding	OTTHUMT00000461832.1	C	NM_002002	-	Missense_Mutation	7763242	-1	no_errors	ENST00000346664	ensembl	human	known	74_37	missense	SNP	0.955	T
JAG1	182	genome.wustl.edu	37	20	10627605	10627605	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:10627605C>T	ENST00000254958.5	-	14	2382	c.1867G>A	c.(1867-1869)Gga>Aga	p.G623R	JAG1_ENST00000423891.2_Missense_Mutation_p.G464R|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	623	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CAGTATGTTCCCGTGAAGCCT	0.582									Alagille Syndrome																																								0								ENSG00000101384						174.0	158.0	163.0					20																	10627605		2203	4300	6503	JAG1	SO:0001583	missense	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1867G>A	20.37:g.10627605C>T	ENSP00000254958:p.Gly623Arg	Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	28	30.00	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.G623R	ENST00000254958.5	37	c.1867	CCDS13112.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.260242	0.95368	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	T;T	0.76186	-1.0;-1.0	6.07	6.07	0.98685	Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87992	0.2750	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	623	P78504	JAG1_HUMAN	R	623;464	ENSP00000254958:G623R;ENSP00000389519:G464R	ENSP00000254958:G623R	G	-	1	0	JAG1	10575605	1.000000	0.71417	0.976000	0.42696	0.997000	0.91878	7.776000	0.85560	2.884000	0.98904	0.655000	0.94253	GGA	-	pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.582	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	protein_coding		C	NM_000214	-		10627605	-1	no_errors	ENST00000254958	ensembl	human	known	74_37	missense	SNP	1.000	T
CPSF3	51692	genome.wustl.edu	37	2	9607919	9607919	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:9607919C>T	ENST00000238112.3	+	16	2062				CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000460593.1_Intron	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		AGTTTTTCACCCATTATTTCT	0.493																																					Colon(194;1259 2048 3845 5218 19985)												0								ENSG00000119203						71.0	65.0	67.0					2																	9607919		2203	4300	6503	CPSF3	SO:0001627	intron_variant	0			-	HGNC	AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1856+14C>T	2.37:g.9607919C>T		Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	17	26.09	O14769|Q53RS2|Q96F36	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000238112.3	37	NULL	CCDS1664.1	2																																																																																			-	-		0.493	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	protein_coding	OTTHUMT00000206843.1	C	NM_016207	-		9607919	+1	no_errors	ENST00000489403	ensembl	human	known	74_37	rna	SNP	0.000	T
ZNF446	55663	genome.wustl.edu	37	19	58988612	58988612	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:58988612C>T	ENST00000594369.1	+	2	408	c.27C>T	c.(25-27)tgC>tgT	p.C9C	ZNF446_ENST00000335841.4_Silent_p.C9C|CTD-2619J13.23_ENST00000598051.1_RNA|ZNF446_ENST00000596341.1_Silent_p.C9C	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	9					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTCCCCCATGCCTGCCCGTCA	0.612																																																	0								ENSG00000083838						85.0	100.0	95.0					19																	58988612		2199	4298	6497	ZNF446	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12982.1	19q13.43	2013-01-09				ENSG00000083838		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21036	protein-coding gene	gene with protein product							Standard	NM_017908		Approved	ZKSCAN20, FLJ20626, ZSCAN52	uc002qsz.3	Q9NWS9		ENST00000594369.1:c.27C>T	19.37:g.58988612C>T		Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.C9	ENST00000594369.1	37	c.27	CCDS12982.1	19																																																																																			-	NULL		0.612	ZNF446-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF446	protein_coding	OTTHUMT00000467052.1	C	NM_017908	-		58988612	+1	no_errors	ENST00000594369	ensembl	human	known	74_37	silent	SNP	0.047	T
CACNA1C	775	genome.wustl.edu	37	12	2786469	2786469	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:2786469C>T	ENST00000347598.4	+	42	5100				CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000399644.1_Intron	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGTCCCTCCCCAGCAGGCTG	0.637																																																	0								ENSG00000246627																																			CACNA1C-AS1	SO:0001627	intron_variant	0			-	HGNC	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5100+82C>T	12.37:g.2786469C>T		Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000347598.4	37	NULL	CCDS44788.1	12																																																																																			-	-		0.637	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C-AS1	protein_coding	OTTHUMT00000317035.1	C	NM_000719	-		2786469	-1	no_errors	ENST00000501371	ensembl	human	known	74_37	rna	SNP	0.000	T
NBEA	26960	genome.wustl.edu	37	13	36223825	36223825	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:36223825G>A	ENST00000400445.3	+	51	8275	c.7741G>A	c.(7741-7743)Gat>Aat	p.D2581N	NBEA_ENST00000310336.4_Missense_Mutation_p.D2581N|NBEA_ENST00000540320.1_Missense_Mutation_p.D2581N|NBEA_ENST00000537702.1_Missense_Mutation_p.D374N|NBEA_ENST00000379922.3_Missense_Mutation_p.D159N|NBEA_ENST00000379939.2_Missense_Mutation_p.D2578N	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2581					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CATGTTTAAAGATCAGATGCA	0.448																																																	0								ENSG00000172915						216.0	210.0	212.0					13																	36223825		1979	4157	6136	NBEA	SO:0001583	missense	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7741G>A	13.37:g.36223825G>A	ENSP00000383295:p.Asp2581Asn	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.D2581N	ENST00000400445.3	37	c.7741	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220854	0.79464	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000402346;ENST00000537702;ENST00000379922	T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69611	0.3130	L	0.36672	1.1	0.80722	D	1	B;P;B	0.44521	0.011;0.837;0.286	B;P;B	0.47044	0.024;0.535;0.088	T	0.67074	-0.5762	10	0.31617	T	0.26	.	19.1732	0.93588	0.0:0.0:1.0:0.0	.	2581;159;2578	Q8NFP9;Q8NFP9-2;Q5T321	NBEA_HUMAN;.;.	N	2581;2581;2578;2581;1208;159;374;159	ENSP00000440951:D2581N;ENSP00000383295:D2581N;ENSP00000369271:D2578N;ENSP00000308534:D2581N;ENSP00000440233:D374N;ENSP00000369254:D159N	ENSP00000308534:D2581N	D	+	1	0	NBEA	35121825	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.694000	0.98686	2.541000	0.85698	0.563000	0.77884	GAT	-	NULL		0.448	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		G	NM_015678	-		36223825	+1	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	SNP	1.000	A
RIPK3	11035	genome.wustl.edu	37	14	24809178	24809178	+	5'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24809178C>T	ENST00000216274.5	-	0	73				RIPK3_ENST00000554338.1_5'UTR|RP11-934B9.3_ENST00000555591.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3						activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		GTCTACTTTCCGGGTTGTTAC	0.572																																					Pancreas(58;918 1191 4668 13304 15331)												0								ENSG00000129465																																			RIPK3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.-146G>A	14.37:g.24809178C>T		Somatic	0	27	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000216274.5	37	NULL	CCDS9628.1	14																																																																																			-	-		0.572	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIPK3	protein_coding	OTTHUMT00000073203.4	C	NM_006871	-		24809178	-1	no_errors	ENST00000554338	ensembl	human	known	74_37	rna	SNP	0.001	T
WDR77	79084	genome.wustl.edu	37	1	111984657	111984657	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:111984657G>A	ENST00000235090.5	-	9	1065	c.859C>T	c.(859-861)Ctt>Ttt	p.L287F	WDR77_ENST00000497278.1_5'UTR|RP11-552M11.4_ENST00000416099.1_RNA|WDR77_ENST00000411751.2_Missense_Mutation_p.L223F	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	287					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA metabolic process (GO:0016070)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|methylosome (GO:0034709)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		AACTCAGAAAGGCTTGAGTCC	0.507											OREG0013669	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000116455						115.0	99.0	104.0					1																	111984657		2203	4300	6503	WDR77	SO:0001583	missense	0			-	HGNC	BC016946	CCDS835.1	1p13.2	2013-01-09		2005-08-09	ENSG00000116455	ENSG00000116455		"""WD repeat domain containing"""	29652	protein-coding gene	gene with protein product		611734				11756452, 8619474	Standard	NM_024102		Approved	MEP50	uc001ebb.3	Q9BQA1	OTTHUMG00000011748	ENST00000235090.5:c.859C>T	1.37:g.111984657G>A	ENSP00000235090:p.Leu287Phe	Somatic	0	51	0.00	1439	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00	B3KMW6|B4DP38|Q3LID2|Q53FU2|Q6JZZ5|Q96GK4|Q9BWY3	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	p.L287F	ENST00000235090.5	37	c.859	CCDS835.1	1	.	.	.	.	.	.	.	.	.	.	G	11.23	1.576626	0.28092	.	.	ENSG00000116455	ENST00000235090;ENST00000411751	T;T	0.29917	1.55;1.55	5.19	3.29	0.37713	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.168453	0.53938	N	0.000047	T	0.08492	0.0211	L	0.28458	0.855	0.38691	D	0.952759	B;B	0.16396	0.001;0.017	B;B	0.16722	0.009;0.016	T	0.09818	-1.0657	10	0.24483	T	0.36	-5.8286	8.1537	0.31156	0.3137:0.0:0.6863:0.0	.	223;287	B4DP38;Q9BQA1	.;MEP50_HUMAN	F	287;223	ENSP00000235090:L287F;ENSP00000400321:L223F	ENSP00000235090:L287F	L	-	1	0	WDR77	111786180	1.000000	0.71417	0.875000	0.34327	0.863000	0.49368	2.867000	0.48428	0.742000	0.32697	0.655000	0.94253	CTT	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.507	WDR77-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR77	protein_coding	OTTHUMT00000032465.1	G	NM_024102	-		111984657	-1	no_errors	ENST00000235090	ensembl	human	known	74_37	missense	SNP	0.571	A
PHF21B	112885	genome.wustl.edu	37	22	45312480	45312480	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:45312480G>A	ENST00000313237.5	-	4	394	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Missense_Mutation_p.L70F|PHF21B_ENST00000404079.2_Missense_Mutation_p.L70F|PHF21B_ENST00000396103.3_Missense_Mutation_p.L82F	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	82							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		GCAACGGGGAGGCTGTCTGGA	0.657																																																	0								ENSG00000056487						37.0	42.0	40.0					22																	45312480		2203	4300	6503	PHF21B	SO:0001583	missense	0			-	HGNC	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.244C>T	22.37:g.45312480G>A	ENSP00000324403:p.Leu82Phe	Somatic	0	160	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	60	25.00	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L82F	ENST00000313237.5	37	c.244	CCDS14061.1	22	.	.	.	.	.	.	.	.	.	.	G	27.6	4.850332	0.91277	.	.	ENSG00000056487	ENST00000313237;ENST00000396103;ENST00000404079;ENST00000447824;ENST00000420689	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.06	5.06	0.68205	.	0.089279	0.45361	D	0.000370	T	0.46502	0.1396	L	0.48642	1.525	0.54753	D	0.999989	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.998	T	0.40098	-0.9581	10	0.54805	T	0.06	-21.7849	18.4696	0.90767	0.0:0.0:1.0:0.0	.	70;82;70;82	B7Z657;Q96EK2-3;B7Z4F8;Q96EK2	.;.;.;PF21B_HUMAN	F	82;82;70;70;70	ENSP00000324403:L82F;ENSP00000379410:L82F;ENSP00000385105:L70F;ENSP00000388619:L70F;ENSP00000401294:L70F	ENSP00000324403:L82F	L	-	1	0	PHF21B	43691144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.530000	0.90606	2.346000	0.79739	0.655000	0.94253	CTC	-	NULL		0.657	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	protein_coding	OTTHUMT00000321731.2	G	NM_138415	-		45312480	-1	no_errors	ENST00000313237	ensembl	human	known	74_37	missense	SNP	1.000	A
JAK3	3718	genome.wustl.edu	37	19	17950351	17950351	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17950351T>A	ENST00000527670.1	-	9	1405	c.1376A>T	c.(1375-1377)gAt>gTt	p.D459V	JAK3_ENST00000534444.1_Missense_Mutation_p.D459V|JAK3_ENST00000458235.1_Missense_Mutation_p.D459V|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	459	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	CAGCCCCCCATCCCAGCAGGT	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																			Dom	yes		19	19p13.1	3718	Janus kinase 3		L	0								ENSG00000105639						37.0	30.0	33.0					19																	17950351		2202	4300	6502	JAK3	SO:0001583	missense	0			-	HGNC	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1376A>T	19.37:g.17950351T>A	ENSP00000432511:p.Asp459Val	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	18.75	Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D459V	ENST00000527670.1	37	c.1376	CCDS12366.1	19	.	.	.	.	.	.	.	.	.	.	T	2.776	-0.254547	0.05829	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.24538	1.85;1.85;1.85	3.7	1.41	0.22369	SH2 motif (2);	1.148760	0.06236	N	0.689558	T	0.14960	0.0361	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.34015	0.435;0.038;0.018	B;B;B	0.29353	0.101;0.039;0.021	T	0.26087	-1.0113	10	0.30078	T	0.28	-0.8943	4.6135	0.12415	0.0:0.3026:0.0:0.6974	.	459;459;459	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	V	459	ENSP00000391676:D459V;ENSP00000432511:D459V;ENSP00000436421:D459V	ENSP00000413248:D459V	D	-	2	0	JAK3	17811351	0.001000	0.12720	0.011000	0.14972	0.078000	0.17371	0.627000	0.24506	0.496000	0.27904	0.374000	0.22700	GAT	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK3	protein_coding	OTTHUMT00000385549.1	T	NM_000215	-		17950351	-1	no_errors	ENST00000458235	ensembl	human	known	74_37	missense	SNP	0.012	A
EP400NL	347918	genome.wustl.edu	37	12	132588701	132588701	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:132588701C>T	ENST00000376625.4	+	1	162	c.136C>T	c.(136-138)Cta>Tta	p.L46L	EP400NL_ENST00000443539.2_Silent_p.L46L|EP400NL_ENST00000392352.1_Silent_p.L46L|EP400NL_ENST00000361109.5_Silent_p.L46L|EP400NL_ENST00000389560.2_Silent_p.L46L			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	46										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CAGCCACCAACTACAGCAGCT	0.697																																																	0								ENSG00000185684						8.0	13.0	11.0					12																	132588701		686	1580	2266	EP400NL	SO:0001819	synonymous_variant	0			-	HGNC	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.136C>T	12.37:g.132588701C>T		Somatic	0	136	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	44	15.38	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L46	ENST00000376625.4	37	c.136		12																																																																																			-	NULL		0.697	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	protein_coding		C	NM_182613	-		132588701	+1	no_errors	ENST00000376625	ensembl	human	known	74_37	silent	SNP	0.894	T
ARID1A	8289	genome.wustl.edu	37	1	27099425	27099425	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:27099425T>G	ENST00000324856.7	+	14	4033	c.3662T>G	c.(3661-3663)aTg>aGg	p.M1221R	ARID1A_ENST00000457599.2_Missense_Mutation_p.M1221R|ARID1A_ENST00000374152.2_Missense_Mutation_p.M838R|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1221					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.M1220fs*9(1)|p.M1220fs*2(1)|p.M1221T(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTGACATGATGGGGCGCATG	0.473			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	3	Deletion - Frameshift(2)|Substitution - Missense(1)	ovary(2)|lung(1)						ENSG00000117713						100.0	103.0	102.0					1																	27099425		2203	4300	6503	ARID1A	SO:0001583	missense	0			-	HGNC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3662T>G	1.37:g.27099425T>G	ENSP00000320485:p.Met1221Arg	Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	21	40.00	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.M1221R	ENST00000324856.7	37	c.3662	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.02|12.02	1.812036|1.812036	0.32053|0.32053	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000430799|ENST00000324856;ENST00000457599;ENST00000374152	.|T;T;T	.|0.02682	.|4.42;4.2;4.24	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	.|0.113630	.|0.85682	.|D	.|0.000000	T|T	0.04770|0.04770	0.0129|0.0129	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.44195	.|0.804;0.828;0.458;0.495	.|B;B;B;B	.|0.36186	.|0.195;0.219;0.09;0.041	T|T	0.41963|0.41963	-0.9479|-0.9479	5|10	.|0.46703	.|T	.|0.11	-7.8577|-7.8577	15.4919|15.4919	0.75611|0.75611	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|838;1221;1221;874	.|O14497-3;O14497;O14497-2;Q4LE49	.|.;ARI1A_HUMAN;.;.	E|R	117|1221;1221;838	.|ENSP00000320485:M1221R;ENSP00000387636:M1221R;ENSP00000363267:M838R	.|ENSP00000320485:M1221R	D|M	+|+	3|2	2|0	ARID1A|ARID1A	26972012|26972012	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.591000|3.591000	0.53986|0.53986	2.253000|2.253000	0.74438|0.74438	0.533000|0.533000	0.62120|0.62120	GAT|ATG	-	NULL		0.473	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	protein_coding	OTTHUMT00000011437.2	T	NM_139135	-		27099425	+1	no_errors	ENST00000324856	ensembl	human	known	74_37	missense	SNP	1.000	G
NBEA	26960	genome.wustl.edu	37	13	36220063	36220063	+	Intron	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:36220063A>C	ENST00000400445.3	+	50	8151				NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_Intron|NBEA_ENST00000379922.3_Missense_Mutation_p.I116L|NBEA_ENST00000379939.2_Intron	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin						protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AAAGGACTTTATTAAGGTATA	0.363																																																	0								ENSG00000172915						10.0	11.0	10.0					13																	36220063		874	1986	2860	NBEA	SO:0001627	intron_variant	0			-	HGNC	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.7618-333A>C	13.37:g.36220063A>C		Somatic	0	29	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.I116L	ENST00000400445.3	37	c.346	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	A	8.058	0.767477	0.15983	.	.	ENSG00000172915	ENST00000402346;ENST00000379922	T	0.79454	-1.27	5.14	2.71	0.32032	.	.	.	.	.	T	0.64594	0.2612	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.01281	0.0	T	0.52793	-0.8528	8	0.27785	T	0.31	.	9.3387	0.38067	0.854:0.0:0.146:0.0	.	116	Q8NFP9-2	.	L	116	ENSP00000369254:I116L	ENSP00000369254:I116L	I	+	1	0	NBEA	35118063	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	1.787000	0.38704	0.304000	0.22809	0.460000	0.39030	ATT	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	protein_coding		A	NM_015678	-		36220063	+1	no_errors	ENST00000379922	ensembl	human	known	74_37	missense	SNP	1.000	C
EXOC3L4	91828	genome.wustl.edu	37	14	103568582	103568582	+	Silent	SNP	C	C	T	rs149486486		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:103568582C>T	ENST00000380069.3	+	2	598	c.522C>T	c.(520-522)gcC>gcT	p.A174A		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	174					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						ACCCTACGGCCTTCGCGCGGC	0.677																																																	0								ENSG00000205436	C		0,4392		0,0,2196	12.0	13.0	12.0		522	4.1	1.0	14	dbSNP_134	12	1,8587		0,1,4293	no	coding-synonymous	EXOC3L4	NM_001077594.1		0,1,6489	TT,TC,CC		0.0116,0.0,0.0077		174/723	103568582	1,12979	2196	4294	6490	EXOC3L4	SO:0001819	synonymous_variant	0			-	HGNC	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.522C>T	14.37:g.103568582C>T		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	28	15.15	Q14CR2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sec6	p.A174	ENST00000380069.3	37	c.522	CCDS32163.1	14																																																																																			-	NULL		0.677	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC3L4	protein_coding	OTTHUMT00000415663.1	C	XM_941093	rs149486486		103568582	+1	no_errors	ENST00000380069	ensembl	human	known	74_37	silent	SNP	0.668	T
LRP4	4038	genome.wustl.edu	37	11	46905442	46905442	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:46905442G>A	ENST00000378623.1	-	19	2834	c.2592C>T	c.(2590-2592)atC>atT	p.I864I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	864					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTCCACCACGATGTCCCGAG	0.537																																																	0								ENSG00000134569						215.0	167.0	183.0					11																	46905442		2201	4299	6500	LRP4	SO:0001819	synonymous_variant	0			-	HGNC	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.2592C>T	11.37:g.46905442G>A		Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.I864	ENST00000378623.1	37	c.2592	CCDS31478.1	11																																																																																			-	pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4	protein_coding	OTTHUMT00000391133.1	G	NM_002334	-		46905442	-1	no_errors	ENST00000378623	ensembl	human	known	74_37	silent	SNP	0.266	A
FCRL4	83417	genome.wustl.edu	37	1	157545226	157545226	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:157545226C>T	ENST00000271532.1	-	0	1771				FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4						immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTTGATCATTCCAGGGGCCGC	0.458																																																	0								ENSG00000163518																																			FCRL4	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.*88G>A	1.37:g.157545226C>T		Somatic	0	24	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	Q96PJ3|Q96RE0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000271532.1	37	NULL	CCDS1166.1	1																																																																																			-	-		0.458	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	protein_coding	OTTHUMT00000086180.1	C	NM_031282	-		157545226	-1	no_errors	ENST00000448509	ensembl	human	known	74_37	rna	SNP	0.000	T
MAST4	375449	genome.wustl.edu	37	5	66459948	66459948	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:66459948T>A	ENST00000403625.2	+	29	5236	c.4941T>A	c.(4939-4941)gaT>gaA	p.D1647E	MAST4_ENST00000403666.1_Missense_Mutation_p.D1458E|MAST4_ENST00000404260.3_Missense_Mutation_p.D1650E|MAST4_ENST00000261569.7_Missense_Mutation_p.D1453E|MAST4_ENST00000405643.1_Missense_Mutation_p.D1468E	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1650						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCCTCCAGGATGGTCTCTGCC	0.667																																																	0								ENSG00000069020						11.0	13.0	12.0					5																	66459948		1923	4105	6028	MAST4	SO:0001583	missense	0			-	HGNC	AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4941T>A	5.37:g.66459948T>A	ENSP00000385727:p.Asp1647Glu	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom	p.D1650E	ENST00000403625.2	37	c.4950	CCDS54861.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.16|18.16	3.562726|3.562726	0.65538|0.65538	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569|ENST00000443808	T;T;T;T;T|.	0.69435|.	-0.39;-0.39;-0.4;-0.4;-0.38|.	5.09|5.09	-2.64|-2.64	0.06114|0.06114	.|.	1.881550|.	0.02625|.	N|.	0.103631|.	T|T	0.29945|0.29945	0.0749|0.0749	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	0.999998|0.999998	B;B|.	0.24043|.	0.058;0.096|.	B;B|.	0.25614|.	0.028;0.062|.	T|T	0.31280|0.31280	-0.9949|-0.9949	10|5	0.33940|.	T|.	0.23|.	-19.4558|-19.4558	7.3325|7.3325	0.26590|0.26590	0.1288:0.2471:0.0:0.6241|0.1288:0.2471:0.0:0.6241	.|.	1650;1458|.	O15021;O15021-3|.	MAST4_HUMAN;.|.	E|R	1650;1647;1458;1468;1468;1453|704	ENSP00000385048:D1650E;ENSP00000385727:D1647E;ENSP00000384313:D1458E;ENSP00000384099:D1468E;ENSP00000261569:D1453E|.	ENSP00000261569:D1453E|.	D|W	+|+	3|1	2|0	MAST4|MAST4	66495704|66495704	0.000000|0.000000	0.05858|0.05858	0.002000|0.002000	0.10522|0.10522	0.118000|0.118000	0.20060|0.20060	-1.359000|-1.359000	0.02602|0.02602	-0.866000|-0.866000	0.04068|0.04068	-0.899000|-0.899000	0.02877|0.02877	GAT|TGG	-	NULL		0.667	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	protein_coding	OTTHUMT00000326324.2	T		-		66459948	+1	no_errors	ENST00000404260	ensembl	human	known	74_37	missense	SNP	0.001	A
SNAI1	6615	genome.wustl.edu	37	20	48600506	48600506	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:48600506C>T	ENST00000244050.2	+	2	289	c.228C>T	c.(226-228)tcC>tcT	p.S76S		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	76					cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CCTGGGCCTCCCTTCGGCTCC	0.667																																																	0								ENSG00000124216						42.0	48.0	46.0					20																	48600506		2203	4300	6503	SNAI1	SO:0001819	synonymous_variant	0			-	HGNC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.228C>T	20.37:g.48600506C>T		Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	25	51.92	B2R842|Q9P113|Q9UBP7|Q9UHH7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S76	ENST00000244050.2	37	c.228	CCDS13423.1	20																																																																																			-	NULL		0.667	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	protein_coding	OTTHUMT00000080350.1	C		-		48600506	+1	no_errors	ENST00000244050	ensembl	human	known	74_37	silent	SNP	0.049	T
RAB8A	4218	genome.wustl.edu	37	19	16222762	16222762	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:16222762G>A	ENST00000300935.3	+	1	324	c.51G>A	c.(49-51)tcG>tcA	p.S17S	RAB8A_ENST00000586682.1_Silent_p.S17S|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	17					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						TCGGGGACTCGGGGGTGGGGA	0.602																																																	0								ENSG00000167461						168.0	171.0	170.0					19																	16222762		2203	4300	6503	RAB8A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.51G>A	19.37:g.16222762G>A		Somatic	0	193	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	80	19.19	B4DEK7|P24407|Q6FHV5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S17	ENST00000300935.3	37	c.51	CCDS12339.1	19																																																																																			-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.602	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	protein_coding	OTTHUMT00000460186.1	G	NM_005370	-		16222762	+1	no_errors	ENST00000300935	ensembl	human	known	74_37	silent	SNP	1.000	A
GAD2	2572	genome.wustl.edu	37	10	26581851	26581851	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:26581851C>T	ENST00000376261.3	+	15	2018	c.1515C>T	c.(1513-1515)tgC>tgT	p.C505C	GAD2_ENST00000259271.3_Silent_p.C505C	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	505					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAAATGTCTGCTTCTGGTACA	0.448																																																	0								ENSG00000136750						232.0	236.0	235.0					10																	26581851		2203	4300	6503	GAD2	SO:0001819	synonymous_variant	0			-	HGNC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1515C>T	10.37:g.26581851C>T		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	16	30.43	Q9UD87	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase	p.C505	ENST00000376261.3	37	c.1515	CCDS7149.1	10																																																																																			-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase		0.448	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	protein_coding	OTTHUMT00000047255.1	C	NM_000818	-		26581851	+1	no_errors	ENST00000259271	ensembl	human	known	74_37	silent	SNP	1.000	T
ANO4	121601	genome.wustl.edu	37	12	101133633	101133633	+	Splice_Site	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:101133633T>C	ENST00000538618.1	+	3	108	c.108T>C	c.(106-108)ggT>ggC	p.G36G				Q32M45	ANO4_HUMAN	anoctamin 4	0					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTCACCAGGTTATGACGTTG	0.453										HNSCC(74;0.22)																																							0								ENSG00000151572																																			ANO4	SO:0001630	splice_region_variant	0			-	HGNC	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000538618.1:c.107-1T>C	12.37:g.101133633T>C		Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	Q8NAJ0|Q8NB39|Q8NB53	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G36	ENST00000538618.1	37	c.108		12																																																																																			-	NULL		0.453	ANO4-202	KNOWN	basic	protein_coding	ANO4	protein_coding		T	NM_178826	-	Silent	101133633	+1	no_errors	ENST00000538618	ensembl	human	known	74_37	silent	SNP	1.000	C
CELF3	11189	genome.wustl.edu	37	1	151688320	151688320	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:151688320C>T	ENST00000290583.4	-	1	939				CELF3_ENST00000290585.4_Intron|RIIAD1_ENST00000326413.3_Intron|AL589765.1_ENST00000442233.2_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CCAGCCCACCCCGAAGCCTCT	0.597																																																	0								ENSG00000159409						57.0	59.0	58.0					1																	151688320		2203	4300	6503	CELF3	SO:0001627	intron_variant	0			-	HGNC	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.145+31G>A	1.37:g.151688320C>T		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	20.00	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000290583.4	37	NULL	CCDS1002.1	1																																																																																			-	-		0.597	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF3	protein_coding	OTTHUMT00000036663.2	C	NM_007185	-		151688320	-1	no_errors	ENST00000478829	ensembl	human	known	74_37	rna	SNP	0.047	T
PLEKHA5	54477	genome.wustl.edu	37	12	19511189	19511189	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:19511189C>T	ENST00000299275.6	+	21	2674	c.2668C>T	c.(2668-2670)Ctc>Ttc	p.L890F	PLEKHA5_ENST00000424268.1_Missense_Mutation_p.L879F|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.L834F|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.L948F|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.L953F|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.L948F|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.L648F|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.L1056F|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.L872F	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	890					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGTGGAACAGCTCTGTTTGGC	0.373																																					Pancreas(196;329 2193 11246 14234 19524)												0								ENSG00000052126						91.0	78.0	83.0					12																	19511189		2203	4300	6503	PLEKHA5	SO:0001583	missense	0			-	HGNC	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2668C>T	12.37:g.19511189C>T	ENSP00000299275:p.Leu890Phe	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.L953F	ENST00000299275.6	37	c.2857	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926572	0.73327	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974;ENST00000538972	T;T;T;T;T;T;T;T;T;T;T	0.30714	2.84;2.84;1.52;2.84;2.84;2.84;2.84;2.84;2.84;2.84;1.52	5.36	5.36	0.76844	.	0.422545	0.23340	N	0.049257	T	0.53302	0.1788	M	0.76574	2.34	0.36344	D	0.859638	D;D;P;D;D;D;D;D	0.89917	0.999;0.998;0.666;0.999;1.0;0.999;0.996;0.998	D;D;B;D;D;D;P;D	0.91635	0.994;0.95;0.18;0.995;0.999;0.996;0.893;0.933	T	0.58020	-0.7710	10	0.37606	T	0.19	-12.5498	12.2015	0.54328	0.0:0.8801:0.0:0.1199	.	953;872;879;1051;834;1056;890;948	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0-5;E9PHQ3;Q9HAU0;Q9HAU0-2	.;.;.;.;.;.;PKHA5_HUMAN;.	F	953;948;834;1052;1056;890;648;948;879;872;845;171	ENSP00000325155:L953F;ENSP00000347560:L948F;ENSP00000352104:L834F;ENSP00000404296:L1056F;ENSP00000299275:L890F;ENSP00000440611:L648F;ENSP00000439673:L948F;ENSP00000400411:L879F;ENSP00000439837:L872F;ENSP00000440371:L845F;ENSP00000443553:L171F	ENSP00000299275:L890F	L	+	1	0	PLEKHA5	19402456	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.702000	0.47102	2.805000	0.96524	0.551000	0.68910	CTC	-	NULL		0.373	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	protein_coding	OTTHUMT00000397013.1	C	NM_019012	-		19511189	+1	no_errors	ENST00000317589	ensembl	human	known	74_37	missense	SNP	1.000	T
NLRX1	79671	genome.wustl.edu	37	11	119043612	119043612	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:119043612C>T	ENST00000409109.1	+	4	730	c.143C>T	c.(142-144)gCc>gTc	p.A48V	NLRX1_ENST00000409991.1_Missense_Mutation_p.A48V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A48V|NLRX1_ENST00000409265.4_Missense_Mutation_p.A48V|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.A48V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	48					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTTCCCAGGGCCTTTATACGC	0.597																																																	0								ENSG00000160703						73.0	68.0	70.0					11																	119043612		2200	4295	6495	NLRX1	SO:0001583	missense	0			-	HGNC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.143C>T	11.37:g.119043612C>T	ENSP00000387334:p.Ala48Val	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A48V	ENST00000409109.1	37	c.143	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643552	0.67244	.	.	ENSG00000160703	ENST00000454811;ENST00000449394;ENST00000422249;ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T;T;T;T	0.73681	1.1;1.1;1.12;-0.65;-0.65;-0.77;-0.65;-0.77	5.4	4.49	0.54785	.	0.000000	0.49305	D	0.000147	T	0.75361	0.3839	L	0.27053	0.805	0.34165	D	0.669161	D;D	0.69078	0.997;0.991	D;P	0.66196	0.942;0.734	T	0.82242	-0.0554	10	0.66056	D	0.02	.	10.3762	0.44083	0.0:0.9089:0.0:0.0911	.	48;48	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	V	48	ENSP00000400268:A48V;ENSP00000402801:A48V;ENSP00000402381:A48V;ENSP00000386851:A48V;ENSP00000292199:A48V;ENSP00000386858:A48V;ENSP00000387334:A48V;ENSP00000433442:A48V	ENSP00000292199:A48V	A	+	2	0	NLRX1	118548822	0.941000	0.31946	0.998000	0.56505	0.171000	0.22731	1.020000	0.30027	1.419000	0.47118	-0.229000	0.12294	GCC	-	NULL		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	protein_coding	OTTHUMT00000335403.1	C	NM_170722	-		119043612	+1	no_errors	ENST00000292199	ensembl	human	known	74_37	missense	SNP	0.996	T
TRAPPC6B	122553	genome.wustl.edu	37	14	39619587	39619588	+	Splice_Site	INS	-	-	A	rs150886646		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:39619587_39619588insA	ENST00000330149.5	-	6	672		c.e6-2		TRAPPC6B_ENST00000347691.5_Splice_Site|TRAPPC6B_ENST00000557764.1_Splice_Site	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B						vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		GAAATTTGCCTAAAAAAAAAAA	0.272																																																	0								ENSG00000182400																																			TRAPPC6B	SO:0001630	splice_region_variant	0				HGNC	AK025437	CCDS9670.1, CCDS41947.1	14q13.3	2011-10-10			ENSG00000182400	ENSG00000182400		"""Trafficking protein particle complex"""	23066	protein-coding gene	gene with protein product		610397					Standard	NM_177452		Approved		uc001wut.1	Q86SZ2	OTTHUMG00000140259	ENST00000330149.5:c.446-2->T	14.37:g.39619598_39619598dupA		Somatic	0	51	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	9	25.00	B3KPS2|Q5JPD6|Q86U35|Q86X35	Splice_Site	INS	NA	NA	NA	NA	NA	NA	-	e5-2	ENST00000330149.5	37	c.362-3_362-2	CCDS41947.1	14																																																																																			-	-		0.272	TRAPPC6B-002	NOVEL	basic|appris_principal|CCDS	protein_coding	TRAPPC6B	protein_coding	OTTHUMT00000276775.1	-	NM_177452		Intron	39619588	-1	no_errors	ENST00000347691	ensembl	human	known	74_37	splice_site_ins	INS	1.000:0.967	A
OR5L1	219437	genome.wustl.edu	37	11	55579026	55579026	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:55579026C>T	ENST00000333973.2	+	1	173	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F28F(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTGCCTCTTCCTGCTGTTCC	0.488																																																	1	Substitution - coding silent(1)	skin(1)						ENSG00000186117						243.0	222.0	229.0					11																	55579026		2200	4294	6494	OR5L1	SO:0001819	synonymous_variant	0			-	HGNC	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.84C>T	11.37:g.55579026C>T		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	B2RNK6|Q6IFD0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F28	ENST00000333973.2	37	c.84	CCDS31509.1	11																																																																																			-	prints_GPCR_Rhodpsn		0.488	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L1	protein_coding	OTTHUMT00000391514.1	C	NM_001004738	-		55579026	+1	no_errors	ENST00000333973	ensembl	human	known	74_37	silent	SNP	0.000	T
SLC16A12	387700	genome.wustl.edu	37	10	91222341	91222341	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:91222341G>A	ENST00000341233.4	-	0	295				RP11-168O10.6_ENST00000454270.1_RNA|SLC16A12_ENST00000371790.4_5'UTR|RP11-168O10.6_ENST00000423474.1_RNA	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GGCATTCAAGGTTGGCATAGA	0.413																																																	0								ENSG00000234452																																			RP11-168O10.6	SO:0001623	5_prime_UTR_variant	0			-	Clone_based_vega_gene		CCDS7404.1, CCDS7404.2	10q23.32	2013-07-18	2013-07-18		ENSG00000152779	ENSG00000152779		"""Solute carriers"""	23094	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 12"""	611910	"""solute carrier family 16 (monocarboxylic acid transporters), member 12"", ""solute carrier family 16, member 12 (monocarboxylic acid transporter 12)"""				Standard	NM_213606		Approved	MCT12	uc001kgm.3	Q6ZSM3	OTTHUMG00000018714	ENST00000341233.4:c.-96C>T	10.37:g.91222341G>A		Somatic	0	25	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	Q5M9M9|Q5T7J2|Q6ZV76	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000341233.4	37	NULL		10																																																																																			-	-		0.413	SLC16A12-201	KNOWN	basic|appris_principal	protein_coding	LOC101926906	protein_coding		G	NM_213606	-		91222341	+1	no_errors	ENST00000454270	ensembl	human	known	74_37	rna	SNP	0.009	A
EMR1	2015	genome.wustl.edu	37	19	6926613	6926613	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:6926613G>A	ENST00000312053.4	+	16	2259		c.e16+1		EMR1_ENST00000381404.4_Splice_Site|EMR1_ENST00000250572.8_Splice_Site|EMR1_ENST00000381407.5_Splice_Site|EMR1_ENST00000450315.3_Splice_Site	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1						cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGCATAATCGGTGAGTGACAT	0.507																																																	0								ENSG00000174837						140.0	113.0	123.0					19																	6926613		2203	4300	6503	EMR1	SO:0001630	splice_region_variant	0			-	HGNC	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2222+1G>A	19.37:g.6926613G>A		Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	24.39	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e16+1	ENST00000312053.4	37	c.2222+1	CCDS12175.1	19	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163010	0.57476	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9838	0.64321	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EMR1	6877613	1.000000	0.71417	0.440000	0.26846	0.242000	0.25591	7.294000	0.78760	1.856000	0.53863	0.650000	0.86243	.	-	-		0.507	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	protein_coding	OTTHUMT00000458485.1	G		-	Intron	6926613	+1	no_errors	ENST00000312053	ensembl	human	known	74_37	splice_site	SNP	0.996	A
COL5A3	50509	genome.wustl.edu	37	19	10083625	10083625	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10083625G>A	ENST00000264828.3	-	51	3829	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1248	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCTCTCCAGGGGGACCTTTCT	0.592																																																	0								ENSG00000080573						39.0	32.0	34.0					19																	10083625		2203	4300	6503	COL5A3	SO:0001819	synonymous_variant	0			-	HGNC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3744C>T	19.37:g.10083625G>A		Somatic	0	152	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	60	19.74	Q9NZQ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P1248	ENST00000264828.3	37	c.3744	CCDS12222.1	19																																																																																			-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-		10083625	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	silent	SNP	0.239	A
KIDINS220	57498	genome.wustl.edu	37	2	8946487	8946487	+	Missense_Mutation	SNP	G	G	A	rs374716369		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:8946487G>A	ENST00000256707.3	-	7	698	c.517C>T	c.(517-519)Cct>Tct	p.P173S	KIDINS220_ENST00000319688.5_Missense_Mutation_p.P174S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.P131S|KIDINS220_ENST00000427284.1_Missense_Mutation_p.P173S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.P173S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	173					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAAACTAAAGGGGTGGTTCCA	0.313													G|||	1	0.000199681	0.0008	0.0	5008	,	,		13859	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000134313	G	SER/PRO	3,3605		0,3,1801	135.0	128.0	130.0		517	5.1	1.0	2		130	0,8154		0,0,4077	no	missense	KIDINS220	NM_020738.2	74	0,3,5878	AA,AG,GG		0.0,0.0831,0.0255	probably-damaging	173/1772	8946487	3,11759	1804	4077	5881	KIDINS220	SO:0001583	missense	0			-	HGNC	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.517C>T	2.37:g.8946487G>A	ENSP00000256707:p.Pro173Ser	Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P173S	ENST00000256707.3	37	c.517	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	G	18.88	3.717441	0.68844	8.31E-4	0.0	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6;-0.6	5.09	5.09	0.68999	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.84924	0.5580	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.995;0.995;1.0	D	0.86609	0.1871	10	0.72032	D	0.01	.	18.8567	0.92255	0.0:0.0:1.0:0.0	.	174;131;173	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	S	173;173;131;173;174;174	ENSP00000256707:P173S;ENSP00000411849:P173S;ENSP00000414923:P131S;ENSP00000418974:P173S;ENSP00000419964:P174S;ENSP00000319947:P174S	ENSP00000256707:P173S	P	-	1	0	KIDINS220	8863938	1.000000	0.71417	0.995000	0.50966	0.399000	0.30720	6.194000	0.72082	2.549000	0.85964	0.484000	0.47621	CCT	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.313	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	protein_coding	OTTHUMT00000323408.2	G	NM_020738	-		8946487	-1	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	SNP	1.000	A
TFAP2E	339488	genome.wustl.edu	37	1	36043033	36043033	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:36043033C>T	ENST00000373235.3	+	3	770				RP4-728D4.2_ENST00000444348.1_RNA	NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				GAACTCCTGTCCTGCCCCACA	0.667																																																	0								ENSG00000239636																																			RP4-728D4.2	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.562+2432C>T	1.37:g.36043033C>T		Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000373235.3	37	NULL	CCDS393.2	1																																																																																			-	-		0.667	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000239636	protein_coding	OTTHUMT00000012732.1	C	NM_178548	-		36043033	-1	no_errors	ENST00000444348	ensembl	human	known	74_37	rna	SNP	0.000	T
CACNG5	27091	genome.wustl.edu	37	17	64880855	64880855	+	Intron	SNP	G	G	A	rs570069666		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:64880855G>A	ENST00000533854.1	+	5	807				CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000169565.3_Missense_Mutation_p.G216E			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGGGATGGGGGAGAAGGGAC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18080	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000075429						104.0	96.0	99.0					17																	64880855		2203	4300	6503	CACNG5	SO:0001627	intron_variant	0			-	HGNC	AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+77G>A	17.37:g.64880855G>A		Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.G216E	ENST00000533854.1	37	c.647	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	G	9.536	1.112105	0.20795	.	.	ENSG00000075429	ENST00000169565	T	0.57436	0.4	2.78	-1.0	0.10196	.	0.570836	0.17593	U	0.168695	T	0.37705	0.1013	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26608	-1.0098	6	.	.	.	-5.2413	6.059	0.19826	0.4624:0.0:0.5376:0.0	.	.	.	.	E	216	ENSP00000169565:G216E	.	G	+	2	0	CACNG5	62311317	0.494000	0.26043	0.000000	0.03702	0.019000	0.09904	0.401000	0.20948	-0.228000	0.09869	0.508000	0.49915	GGG	-	NULL		0.567	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	protein_coding	OTTHUMT00000389882.1	G	NM_014404, NM_145811	-		64880855	+1	no_errors	ENST00000169565	ensembl	human	known	74_37	missense	SNP	0.005	A
TUBB4A	10382	genome.wustl.edu	37	19	6495627	6495627	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:6495627C>G	ENST00000264071.2	-	4	1254	c.883G>C	c.(883-885)Gat>Cat	p.D295H	CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA|TUBB4A_ENST00000540257.1_Missense_Mutation_p.D295H			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	295					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TTCTTGGCATCGAACATCTGC	0.682																																																	0								ENSG00000104833						60.0	58.0	59.0					19																	6495627		2203	4298	6501	TUBB4A	SO:0001583	missense	0			-	HGNC	AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.883G>C	19.37:g.6495627C>G	ENSP00000264071:p.Asp295His	Somatic	0	147	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.79	B3KQP4|Q969E5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.D295H	ENST00000264071.2	37	c.883	CCDS12168.1	19	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431289	0.43122	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	D;D	0.85258	-1.96;-1.96	3.71	3.71	0.42584	.	0.000000	0.64402	D	0.000001	D	0.91442	0.7299	H	0.97390	3.995	0.58432	D	0.999995	P	0.36712	0.566	B	0.41271	0.352	D	0.93740	0.7049	10	0.87932	D	0	.	14.2842	0.66235	0.0:1.0:0.0:0.0	.	295	P04350	TBB4A_HUMAN	H	295;295;213	ENSP00000264071:D295H;ENSP00000443590:D295H	ENSP00000264071:D295H	D	-	1	0	TUBB4	6446627	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	7.600000	0.82769	1.639000	0.50556	0.485000	0.47835	GAT	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Gamma_tubulin		0.682	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	protein_coding	OTTHUMT00000457841.1	C	NM_006087	-		6495627	-1	no_errors	ENST00000264071	ensembl	human	known	74_37	missense	SNP	1.000	G
C1QTNF7	114905	genome.wustl.edu	37	4	15341800	15341800	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:15341800G>A	ENST00000295297.4	+	0	241				RP11-665G4.1_ENST00000502344.1_RNA|C1QTNF7_ENST00000510958.1_3'UTR	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7						protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						ATGTTTTGGGGGAAAGTTTGA	0.358																																																	0								ENSG00000163145						97.0	84.0	88.0					4																	15341800		692	1591	2283	C1QTNF7	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF329839	CCDS3414.1, CCDS47025.1	4p15.3	2008-08-29			ENSG00000163145	ENSG00000163145			14342	protein-coding gene	gene with protein product							Standard	NM_001135170		Approved	CTRP7	uc003gnp.3	Q9BXJ2	OTTHUMG00000097095	ENST00000295297.4:c.-19G>A	4.37:g.15341800G>A		Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	26	25.71	B2RBT3|J3KPW3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000295297.4	37	NULL	CCDS47025.1	4																																																																																			-	-		0.358	C1QTNF7-001	NOVEL	basic|CCDS	protein_coding	C1QTNF7	protein_coding	OTTHUMT00000214233.4	G		-		15341800	+1	no_errors	ENST00000510958	ensembl	human	known	74_37	rna	SNP	0.011	A
ASB16	92591	genome.wustl.edu	37	17	42255007	42255007	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:42255007G>A	ENST00000293414.1	+	4	1177	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000592897.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	365					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTCCCTCGGGCCCTGGAAGT	0.597																																																	0								ENSG00000161664						181.0	124.0	143.0					17																	42255007		2203	4300	6503	ASB16	SO:0001583	missense	0			-	HGNC	AK054727	CCDS11478.1	17q21.31	2013-01-10	2011-01-25		ENSG00000161664	ENSG00000161664		"""Ankyrin repeat domain containing"""	19768	protein-coding gene	gene with protein product		615056	"""ankyrin repeat and SOCS box-containing 16"""			12076535	Standard	NM_080863		Approved	FLJ30165	uc002ifl.1	Q96NS5	OTTHUMG00000181809	ENST00000293414.1:c.1093G>A	17.37:g.42255007G>A	ENSP00000293414:p.Ala365Thr	Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	B2RBC0|Q8WXK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.A365T	ENST00000293414.1	37	c.1093	CCDS11478.1	17	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422587	0.25639	.	.	ENSG00000161664	ENST00000293414	T	0.61980	0.06	5.2	5.2	0.72013	.	0.055638	0.64402	D	0.000001	T	0.32224	0.0822	N	0.01705	-0.755	0.38227	D	0.94091	B	0.27765	0.188	B	0.29267	0.1	T	0.37641	-0.9697	10	0.15952	T	0.53	-17.9128	9.6222	0.39727	0.0922:0.0:0.9078:0.0	.	365	Q96NS5	ASB16_HUMAN	T	365	ENSP00000293414:A365T	ENSP00000293414:A365T	A	+	1	0	ASB16	39610533	0.792000	0.28813	1.000000	0.80357	0.997000	0.91878	2.604000	0.46274	2.709000	0.92574	0.491000	0.48974	GCC	-	NULL		0.597	ASB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB16	protein_coding	OTTHUMT00000457703.1	G		-		42255007	+1	no_errors	ENST00000293414	ensembl	human	known	74_37	missense	SNP	1.000	A
ZAP70	7535	genome.wustl.edu	37	2	98340581	98340581	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:98340581G>A	ENST00000264972.5	+	3	297	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	ZAP70_ENST00000442208.1_5'Flank	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	28	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|beta selection (GO:0043366)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative thymic T cell selection (GO:0045060)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell differentiation (GO:0045582)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell activation (GO:0042110)|T cell aggregation (GO:0070489)|T cell differentiation (GO:0030217)|T cell migration (GO:0072678)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GAAGCTGGCGGGCATGGCGGA	0.687																																																	0								ENSG00000115085						11.0	11.0	11.0					2																	98340581		2170	4259	6429	ZAP70	SO:0001583	missense	0			-	HGNC	L05148	CCDS33254.1, CCDS33255.1	2q11-q13	2014-09-17	2002-08-29		ENSG00000115085	ENSG00000115085		"""SH2 domain containing"""	12858	protein-coding gene	gene with protein product		176947	"""zeta-chain (TCR) associated protein kinase (70 kD)"""	SRK		1423621	Standard	NM_001079		Approved	ZAP-70, STD	uc002syd.1	P43403	OTTHUMG00000153060	ENST00000264972.5:c.82G>A	2.37:g.98340581G>A	ENSP00000264972:p.Gly28Ser	Somatic	0	125	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	43	31.75	A6NFP4|Q6PIA4|Q8IXD6|Q9UBS6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G28S	ENST00000264972.5	37	c.82	CCDS33254.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.065292	0.93898	.	.	ENSG00000115085	ENST00000264972	T	0.31510	1.49	4.82	4.82	0.62117	SH2 motif (4);	0.000000	0.51477	D	0.000094	T	0.53658	0.1810	M	0.80847	2.515	0.80722	D	1	D;D	0.59767	0.974;0.986	P;P	0.60682	0.782;0.878	T	0.55302	-0.8162	10	0.38643	T	0.18	.	15.7857	0.78300	0.0:0.0:1.0:0.0	.	28;28	B4E0E2;P43403	.;ZAP70_HUMAN	S	28	ENSP00000264972:G28S	ENSP00000264972:G28S	G	+	1	0	ZAP70	97707013	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	9.433000	0.97501	2.421000	0.82119	0.460000	0.39030	GGC	-	pfam_SH2,smart_SH2,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2		0.687	ZAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZAP70	protein_coding	OTTHUMT00000329278.1	G		-		98340581	+1	no_errors	ENST00000264972	ensembl	human	known	74_37	missense	SNP	1.000	A
USHBP1	83878	genome.wustl.edu	37	19	17362812	17362812	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:17362812G>A	ENST00000252597.3	-	11	1880	c.1707C>T	c.(1705-1707)gtC>gtT	p.V569V	AC010646.3_ENST00000594059.1_5'UTR|USHBP1_ENST00000431146.2_Silent_p.V505V	NM_031941.3	NP_114147.2			Usher syndrome 1C binding protein 1											breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TGCCACCAGGGACAGCAGGAA	0.592																																																	0								ENSG00000130307						28.0	20.0	23.0					19																	17362812		2156	4174	6330	USHBP1	SO:0001819	synonymous_variant	0			-	HGNC	AK096028	CCDS12353.1	19p13.11	2013-06-10			ENSG00000130307	ENSG00000130307			24058	protein-coding gene	gene with protein product		611810				11311560	Standard	XM_005260093		Approved	MCC2, AIEBP, FLJ38709	uc002nfs.1	Q8N6Y0	OTTHUMG00000182730	ENST00000252597.3:c.1707C>T	19.37:g.17362812G>A		Somatic	0	90	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_USH1C-bd_PDZ_domain	p.V569	ENST00000252597.3	37	c.1707	CCDS12353.1	19																																																																																			-	NULL		0.592	USHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USHBP1	protein_coding	OTTHUMT00000463328.1	G	NM_031941	-		17362812	-1	no_errors	ENST00000252597	ensembl	human	known	74_37	silent	SNP	0.000	A
NRP1	8829	genome.wustl.edu	37	10	33474611	33474611	+	Silent	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:33474611C>A	ENST00000265371.4	-	16	2901	c.2376G>T	c.(2374-2376)ggG>ggT	p.G792G	NRP1_ENST00000395995.1_Silent_p.G792G|NRP1_ENST00000374875.1_Silent_p.G604G|NRP1_ENST00000374867.2_Silent_p.G792G			O14786	NRP1_HUMAN	neuropilin 1	792	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCACAGCAATCCCACCAAGGT	0.403																																					Melanoma(104;886 1489 44640 45944 51153)												0								ENSG00000099250						132.0	116.0	121.0					10																	33474611		2203	4300	6503	NRP1	SO:0001819	synonymous_variant	0			-	HGNC	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.2376G>T	10.37:g.33474611C>A		Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00	B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.G792	ENST00000265371.4	37	c.2376	CCDS7177.1	10																																																																																			-	pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom		0.403	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	protein_coding	OTTHUMT00000051203.2	C		-		33474611	-1	no_errors	ENST00000265371	ensembl	human	known	74_37	silent	SNP	0.993	A
ZNF469	84627	genome.wustl.edu	37	16	88496326	88496326	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:88496326C>T	ENST00000437464.1	+	1	2448	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	ZNF469_ENST00000565624.1_Silent_p.F816F	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	816					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GGACAGGCTTCCTGCCCAGCC	0.677																																																	0								ENSG00000225614						9.0	15.0	13.0					16																	88496326		675	1562	2237	ZNF469	SO:0001819	synonymous_variant	0			-	HGNC	AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.2448C>T	16.37:g.88496326C>T		Somatic	0	33	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	4	55.56		Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F816	ENST00000437464.1	37	c.2448	CCDS45544.1	16																																																																																			-	NULL		0.677	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	protein_coding		C	NG_012236	-		88496326	+1	no_errors	ENST00000437464	ensembl	human	known	74_37	silent	SNP	0.704	T
DLG3	1741	genome.wustl.edu	37	X	69720323	69720324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:69720323_69720324insA	ENST00000374360.3	+	17	2381_2382	c.2148_2149insA	c.(2149-2151)aagfs	p.K717fs	DLG3_ENST00000542398.1_Frame_Shift_Ins_p.K266fs|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000194900.4_Frame_Shift_Ins_p.K749fs|DLG3_ENST00000374355.3_Frame_Shift_Ins_p.K412fs	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	717	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				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)					TTTTTCAGGGCAAGCACTGCAT	0.485																																																	0								ENSG00000082458																																			DLG3	SO:0001589	frameshift_variant	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.2150dupA	X.37:g.69720325_69720325dupA	ENSP00000363480:p.Lys717fs	Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	20	9.09	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Frame_Shift_Ins	INS	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.H749fs	ENST00000374360.3	37	c.2244_2245	CCDS14403.1	X																																																																																			-	pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like		0.485	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	-	NM_021120			69720324	+1	no_errors	ENST00000194900	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	A
HAPLN1	1404	genome.wustl.edu	37	5	82940355	82940355	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:82940355C>T	ENST00000274341.4	-	4	1452	c.602G>A	c.(601-603)gGg>gAg	p.G201E		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	201	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CCAGTCCAGCCCGCCCCGCCA	0.622																																																	0								ENSG00000145681						40.0	44.0	43.0					5																	82940355		2203	4300	6503	HAPLN1	SO:0001583	missense	0			-	HGNC		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.602G>A	5.37:g.82940355C>T	ENSP00000274341:p.Gly201Glu	Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B2R9A9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link	p.G201E	ENST00000274341.4	37	c.602	CCDS4061.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802316	0.90538	.	.	ENSG00000145681	ENST00000274341;ENST00000510978	T;T	0.28666	1.6;1.6	5.8	5.8	0.92144	C-type lectin fold (1);Link (5);C-type lectin-like (1);	0.198809	0.53938	D	0.000051	T	0.72358	0.3450	H	0.97682	4.055	0.80722	D	1	D	0.67145	0.996	D	0.80764	0.994	T	0.82396	-0.0478	10	0.87932	D	0	.	20.0608	0.97674	0.0:1.0:0.0:0.0	.	201	P10915	HPLN1_HUMAN	E	201	ENSP00000274341:G201E;ENSP00000422592:G201E	ENSP00000274341:G201E	G	-	2	0	HAPLN1	82976111	1.000000	0.71417	0.991000	0.47740	0.991000	0.79684	5.757000	0.68766	2.733000	0.93635	0.650000	0.86243	GGG	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_Link		0.622	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN1	protein_coding	OTTHUMT00000239256.2	C	NM_001884	-		82940355	-1	no_errors	ENST00000274341	ensembl	human	known	74_37	missense	SNP	0.999	T
C1orf127	148345	genome.wustl.edu	37	1	11008840	11008840	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:11008840G>A	ENST00000377008.4	-	11	1297	c.851C>T	c.(850-852)tCc>tTc	p.S284F	C1orf127_ENST00000377004.4_Missense_Mutation_p.S451F			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	284	Pro-rich.									NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGGGAGAATGGAGGCAGATGT	0.597																																																	0								ENSG00000175262						51.0	60.0	57.0					1																	11008840		2202	4300	6502	C1orf127	SO:0001583	missense	0			-	HGNC	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.851C>T	1.37:g.11008840G>A	ENSP00000366207:p.Ser284Phe	Somatic	0	207	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	43	70	38.05	A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_DNA-bd_dom_put	p.S451F	ENST00000377008.4	37	c.1352		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420699|2.420699	0.42918|0.42918	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000418570;ENST00000520253|ENST00000377004;ENST00000377008	.|T;T	.|0.33865	.|1.39;1.39	4.64|4.64	1.37|1.37	0.22104|0.22104	.|.	.|1.206010	.|0.06116	.|N	.|0.668082	T|T	0.21550|0.21550	0.0519|0.0519	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|B;B;B	.|0.27656	.|0.184;0.184;0.184	.|B;B;B	.|0.30179	.|0.112;0.112;0.112	T|T	0.27331|0.27331	-1.0077|-1.0077	5|10	.|0.09843	.|T	.|0.71	-2.695|-2.695	5.0344|5.0344	0.14426|0.14426	0.2094:0.1675:0.6231:0.0|0.2094:0.1675:0.6231:0.0	.|.	.|302;276;284	.|B7ZLG7;Q8N9H9-2;Q8N9H9	.|.;.;CA127_HUMAN	S|F	286;403|451;284	.|ENSP00000366203:S451F;ENSP00000366207:S284F	.|ENSP00000366203:S451F	P|S	-|-	1|2	0|0	C1orf127|C1orf127	10931427|10931427	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.018000|0.018000	0.09664|0.09664	0.005000|0.005000	0.13129|0.13129	0.055000|0.055000	0.16094|0.16094	0.491000|0.491000	0.48974|0.48974	CCA|TCC	-	NULL		0.597	C1orf127-202	KNOWN	basic	protein_coding	C1orf127	protein_coding		G	NM_173507	-		11008840	-1	no_errors	ENST00000377004	ensembl	human	known	74_37	missense	SNP	0.000	A
KALRN	8997	genome.wustl.edu	37	3	123946890	123946890	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:123946890G>A	ENST00000240874.3	+	2	278	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	KALRN_ENST00000460856.1_Missense_Mutation_p.E41K|KALRN_ENST00000360013.3_Missense_Mutation_p.E41K	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	41	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TATCCTAAAGGAAAAGGTGGC	0.458																																																	0								ENSG00000160145						263.0	252.0	256.0					3																	123946890		2203	4300	6503	KALRN	SO:0001583	missense	0			-	HGNC	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.121G>A	3.37:g.123946890G>A	ENSP00000240874:p.Glu41Lys	Somatic	0	104	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	42	39.13	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E41K	ENST00000240874.3	37	c.121	CCDS3027.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406574	0.83230	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	D;D;D	0.83419	-1.72;-1.72;-1.72	5.12	5.12	0.69794	Cellular retinaldehyde-binding/triple function, C-terminal (4);	0.000000	0.64402	D	0.000001	D	0.84061	0.5389	N	0.25286	0.73	0.80722	D	1	P;D;P	0.63880	0.877;0.993;0.925	B;D;P	0.70935	0.339;0.971;0.54	T	0.78836	-0.2047	10	0.11794	T	0.64	.	18.7347	0.91750	0.0:0.0:1.0:0.0	.	41;41;41	C9IZQ6;O60229;O60229-2	.;KALRN_HUMAN;.	K	41	ENSP00000418611:E41K;ENSP00000240874:E41K;ENSP00000353109:E41K	ENSP00000240874:E41K	E	+	1	0	KALRN	125429580	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.262000	0.89862	2.659000	0.90383	0.650000	0.86243	GAA	-	superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.458	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	protein_coding	OTTHUMT00000258843.4	G	NM_003947	-		123946890	+1	no_errors	ENST00000360013	ensembl	human	known	74_37	missense	SNP	1.000	A
HAS1	3036	genome.wustl.edu	37	19	52217194	52217194	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52217194G>A	ENST00000222115.1	-	5	1257	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F	HAS1_ENST00000601714.1_Missense_Mutation_p.S415F|HAS1_ENST00000594621.1_3'UTR|HAS1_ENST00000540069.2_Missense_Mutation_p.S407F	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	408					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		GAACAGGCCGGAGACCACCGC	0.662																																					NSCLC(132;636 2450 45807 47979)												0								ENSG00000105509						56.0	46.0	50.0					19																	52217194		2201	4300	6501	HAS1	SO:0001583	missense	0			-	HGNC	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1223C>T	19.37:g.52217194G>A	ENSP00000222115:p.Ser408Phe	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	30	14.29	Q14470|Q9NS49	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.S415F	ENST00000222115.1	37	c.1244	CCDS12838.1	19	.	.	.	.	.	.	.	.	.	.	g	15.89	2.965668	0.53507	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.58652	0.32;0.32	3.19	3.19	0.36642	.	0.175066	0.38778	U	0.001576	T	0.64538	0.2607	L	0.39898	1.24	0.51012	D	0.9999	D;D;D	0.69078	0.997;0.994;0.994	D;P;P	0.66716	0.946;0.885;0.839	T	0.67864	-0.5560	10	0.66056	D	0.02	-28.6401	12.2755	0.54733	0.0:0.0:1.0:0.0	.	407;408;407	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	F	407;408	ENSP00000445021:S407F;ENSP00000222115:S408F	ENSP00000222115:S408F	S	-	2	0	HAS1	56909006	1.000000	0.71417	0.980000	0.43619	0.231000	0.25187	9.488000	0.97947	1.812000	0.52913	0.165000	0.16767	TCC	-	NULL		0.662	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	protein_coding	OTTHUMT00000466953.1	G	NM_001523	-		52217194	-1	no_errors	ENST00000601714	ensembl	human	known	74_37	missense	SNP	0.988	A
RBM14	10432	genome.wustl.edu	37	11	66384354	66384354	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:66384354C>T	ENST00000310137.4	+	1	302	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	RBM14_ENST00000443702.1_Silent_p.L55L|RBM14_ENST00000409372.1_Silent_p.L55L|RBM14-RBM4_ENST00000500635.2_Silent_p.L55L|RBM14_ENST00000409738.4_Silent_p.L55L|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000393979.3_Silent_p.L55L|RBM14-RBM4_ENST00000412278.2_Silent_p.L55L|RNU4-39P_ENST00000362455.1_RNA|RBM4_ENST00000514361.3_Silent_p.L55L	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	55	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|glucocorticoid receptor signaling pathway (GO:0042921)|histone deacetylation (GO:0016575)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to hormone (GO:0009725)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CATCGAAGCCCTGCACGGCCA	0.652																																																	0								ENSG00000239306						33.0	39.0	37.0					11																	66384354		2195	4288	6483	RBM14	SO:0001819	synonymous_variant	0			-	HGNC	AF080561	CCDS8147.1, CCDS55772.1, CCDS55773.1	11q13.2	2013-02-12			ENSG00000239306	ENSG00000239306		"""RNA binding motif (RRM) containing"""	14219	protein-coding gene	gene with protein product	"""coactivator activator"", ""SYT interacting protein"""	612409				9285794	Standard	NM_006328		Approved	SIP, SYTIP1, COAA, DKFZp779J0927	uc001oit.3	Q96PK6	OTTHUMG00000140380	ENST00000310137.4:c.163C>T	11.37:g.66384354C>T		Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	39	40.00	B0LM41|B3KMN4|D6RGD8|O75932|Q2PYN1|Q53GV1|Q68DQ9|Q96PK5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L55	ENST00000310137.4	37	c.163	CCDS8147.1	11																																																																																			-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.652	RBM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM14	protein_coding	OTTHUMT00000277128.1	C	NM_006328	-		66384354	+1	no_errors	ENST00000310137	ensembl	human	known	74_37	silent	SNP	1.000	T
HK2	3099	genome.wustl.edu	37	2	75094807	75094807	+	Missense_Mutation	SNP	C	C	T	rs371320494		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:75094807C>T	ENST00000290573.2	+	3	871	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	HK2_ENST00000409174.1_Missense_Mutation_p.R63C	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	91	Hexokinase type-1 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R91S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GACCAACTTCCGTGTGCTTTG	0.507																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000159399	C	CYS/ARG	0,4406		0,0,2203	258.0	267.0	264.0		271	4.5	1.0	2		264	1,8599	1.2+/-3.3	0,1,4299	no	missense	HK2	NM_000189.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	91/918	75094807	1,13005	2203	4300	6503	HK2	SO:0001583	missense	0			-	HGNC		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.271C>T	2.37:g.75094807C>T	ENSP00000290573:p.Arg91Cys	Somatic	0	116	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	58	15.94	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase	p.R91C	ENST00000290573.2	37	c.271	CCDS1956.1	2	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205023	0.79127	0.0	1.16E-4	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.99488	-6.0;-6.0	5.34	4.47	0.54385	Hexokinase, N-terminal (1);	0.050333	0.85682	N	0.000000	D	0.99345	0.9770	H	0.98738	4.315	0.80722	D	1	B	0.10296	0.003	B	0.12837	0.008	D	0.99297	1.0900	10	0.87932	D	0	-13.8452	11.796	0.52100	0.0:0.9158:0.0:0.0842	.	91	P52789	HXK2_HUMAN	C	91;91;63	ENSP00000290573:R91C;ENSP00000387140:R63C	ENSP00000290573:R91C	R	+	1	0	HK2	74948315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.059000	0.49947	1.500000	0.48636	0.655000	0.94253	CGT	-	pfam_Hexokinase_N		0.507	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HK2	protein_coding	OTTHUMT00000252238.2	C	NM_000189	-		75094807	+1	no_errors	ENST00000290573	ensembl	human	known	74_37	missense	SNP	1.000	T
VCX	26609	genome.wustl.edu	37	X	7811269	7811269	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:7811269G>A	ENST00000381059.3	+	2	244	c.25G>A	c.(25-27)Gga>Aga	p.G9R	VCX_ENST00000341408.4_Missense_Mutation_p.G9R	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	9					chromatin organization (GO:0006325)|ribosome assembly (GO:0042255)|spermatogenesis (GO:0007283)	nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GAGAGCCTCGGGACCTCCGGC	0.622																																																	0								ENSG00000182583						23.0	23.0	23.0					X																	7811269		2141	4103	6244	VCX	SO:0001583	missense	0			-	HGNC	AF167081	CCDS14128.1	Xp22.31	2008-02-05	2003-09-12		ENSG00000182583	ENSG00000182583			12667	protein-coding gene	gene with protein product		300229	"""variable charge, X chromosome"""			10607842, 10903929	Standard	NM_013452		Approved	VCX1, VCX10R, VCX-10r, VCX-B1	uc004crz.3	Q9H320	OTTHUMG00000028608	ENST00000381059.3:c.25G>A	X.37:g.7811269G>A	ENSP00000370447:p.Gly9Arg	Somatic	0	161	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	57	25.97	A0JNS5|Q4V774|Q9P0H3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G9R	ENST00000381059.3	37	c.25	CCDS14128.1	X	.	.	.	.	.	.	.	.	.	.	-	7.972	0.749348	0.15710	.	.	ENSG00000182583	ENST00000381059;ENST00000341408	T;T	0.40225	1.04;1.04	0.167	0.167	0.15006	.	.	.	.	.	T	0.50514	0.1620	L	0.48642	1.525	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.37244	-0.9714	8	0.34782	T	0.22	.	.	.	.	.	9	Q9H320	VCX1_HUMAN	R	9	ENSP00000370447:G9R;ENSP00000344144:G9R	ENSP00000344144:G9R	G	+	1	0	VCX	7771269	0.002000	0.14202	0.018000	0.16275	0.019000	0.09904	-0.067000	0.11579	0.270000	0.21984	0.274000	0.19336	GGA	-	NULL		0.622	VCX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VCX	protein_coding	OTTHUMT00000071474.1	G	NM_013452	-		7811269	+1	no_errors	ENST00000381059	ensembl	human	known	74_37	missense	SNP	0.018	A
AFF2	2334	genome.wustl.edu	37	X	147744250	147744250	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:147744250G>A	ENST00000370460.2	+	3	1481	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	AFF2_ENST00000342251.3_Silent_p.K330K|AFF2_ENST00000370458.1_Silent_p.K330K|AFF2_ENST00000370457.5_Silent_p.K330K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	334					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTTCAAAGACTAAACTGC	0.378																																																	0								ENSG00000155966						43.0	40.0	41.0					X																	147744250		2203	4298	6501	AFF2	SO:0001819	synonymous_variant	0			-	HGNC	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1002G>A	X.37:g.147744250G>A		Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	19	56.82	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_AF4/FMR2	p.K334	ENST00000370460.2	37	c.1002	CCDS14684.1	X																																																																																			-	pfam_TF_AF4/FMR2		0.378	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	G	NM_002025	-		147744250	+1	no_errors	ENST00000370460	ensembl	human	known	74_37	silent	SNP	1.000	A
ADAMTS20	80070	genome.wustl.edu	37	12	43819462	43819462	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:43819462G>T	ENST00000389420.3	-	28	4138	c.4139C>A	c.(4138-4140)tCa>tAa	p.S1380*	ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S498*|ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1380*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1380	TSP type-1 10. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TACAAGTCTTGATTTTATTCC	0.323																																																	0								ENSG00000173157						133.0	116.0	122.0					12																	43819462		2203	4300	6503	ADAMTS20	SO:0001587	stop_gained	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4139C>A	12.37:g.43819462G>T	ENSP00000374071:p.Ser1380*	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6NNC9|J3QT00	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S1380*	ENST00000389420.3	37	c.4139	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	G	41	8.924943	0.99004	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	.	.	.	4.71	3.82	0.43975	.	0.162281	0.27319	N	0.019910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.8272	0.63357	0.0752:0.0:0.9248:0.0	.	.	.	.	X	1380;510;498;1380;1380	.	ENSP00000374068:S1380X	S	-	2	0	ADAMTS20	42105729	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	6.129000	0.71657	1.298000	0.44778	-0.143000	0.13931	TCA	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.323	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	G	NM_025003	-		43819462	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	nonsense	SNP	1.000	T
NF1	4763	genome.wustl.edu	37	17	29588841	29588841	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29588841C>T	ENST00000358273.4	+	35	5073	c.4690C>T	c.(4690-4692)Ctt>Ttt	p.L1564F	NF1_ENST00000356175.3_Missense_Mutation_p.L1543F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1564					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGCCTTAACCTTACCAGTTC	0.433			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)						ENSG00000196712						87.0	79.0	82.0					17																	29588841		2203	4300	6503	NF1	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	-	HGNC		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.4690C>T	17.37:g.29588841C>T	ENSP00000351015:p.Leu1564Phe	Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.L1564F	ENST00000358273.4	37	c.4690	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.479071	0.84747	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.10192	3.06;3.21;2.9	5.83	5.83	0.93111	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.21841	0.0526	L	0.34521	1.04	0.80722	D	1	B;D;P	0.69078	0.212;0.997;0.935	B;D;P	0.78314	0.071;0.991;0.714	T	0.00244	-1.1883	10	0.56958	D	0.05	.	12.4193	0.55512	0.0:0.924:0.0:0.076	.	593;1543;1564	Q59FX3;P21359-2;P21359	.;.;NF1_HUMAN	F	1564;1543;1209	ENSP00000351015:L1564F;ENSP00000348498:L1543F;ENSP00000389907:L1209F	ENSP00000348498:L1543F	L	+	1	0	NF1	26612967	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.486000	0.60286	2.761000	0.94854	0.650000	0.86243	CTT	-	superfamily_ARM-type_fold		0.433	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	protein_coding	OTTHUMT00000256351.2	C	NM_000267	-		29588841	+1	no_errors	ENST00000358273	ensembl	human	known	74_37	missense	SNP	1.000	T
MPO	4353	genome.wustl.edu	37	17	56355503	56355503	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:56355503G>A	ENST00000225275.3	-	7	1065	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	MPO_ENST00000578493.1_5'Flank|MPO_ENST00000340482.3_Missense_Mutation_p.P329S	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	297					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	TCATTGGGCGGGATCTGAGGC	0.627																																																	0								ENSG00000005381						63.0	62.0	62.0					17																	56355503		2203	4300	6503	MPO	SO:0001583	missense	0			-	HGNC		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.889C>T	17.37:g.56355503G>A	ENSP00000225275:p.Pro297Ser	Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P329S	ENST00000225275.3	37	c.985	CCDS11604.1	17	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978971	0.92982	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.74526	-0.85;-0.85	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.86756	0.6009	M	0.77820	2.39	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88244	0.2912	10	0.87932	D	0	-16.3628	18.0012	0.89198	0.0:0.0:1.0:0.0	.	297	P05164	PERM_HUMAN	S	329;297	ENSP00000344419:P329S;ENSP00000225275:P297S	ENSP00000225275:P297S	P	-	1	0	MPO	53710502	1.000000	0.71417	0.998000	0.56505	0.947000	0.59692	9.813000	0.99286	2.518000	0.84900	0.561000	0.74099	CCG	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.627	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPO	protein_coding	OTTHUMT00000443971.1	G		-		56355503	-1	no_errors	ENST00000340482	ensembl	human	known	74_37	missense	SNP	1.000	A
SLC4A10	57282	genome.wustl.edu	37	2	162821569	162821569	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:162821569C>T	ENST00000446997.1	+	23	3138	c.3045C>T	c.(3043-3045)gcC>gcT	p.A1015A	SLC4A10_ENST00000415876.2_Silent_p.A985A|SLC4A10_ENST00000272716.5_Silent_p.A985A|SLC4A10_ENST00000375514.5_Silent_p.A996A|SLC4A10_ENST00000421911.1_Silent_p.A1015A	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1015				A -> S (in Ref. 1; BAB18301). {ECO:0000305}.	bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	AGGTGTTAGCCCTGGTATTTG	0.368																																																	0								ENSG00000144290						80.0	72.0	75.0					2																	162821569		1804	4082	5886	SLC4A10	SO:0001819	synonymous_variant	0			-	HGNC		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.3045C>T	2.37:g.162821569C>T		Somatic	0	95	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	29	29.27	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.A1015	ENST00000446997.1	37	c.3045	CCDS54411.1	2																																																																																			-	tigrfam_HCO3_transpt_euk		0.368	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	protein_coding	OTTHUMT00000333090.1	C	NM_022058	-		162821569	+1	no_errors	ENST00000446997	ensembl	human	known	74_37	silent	SNP	0.516	T
UNC80	285175	genome.wustl.edu	37	2	210678560	210678560	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:210678560A>G	ENST00000439458.1	+	8	1275	c.1195A>G	c.(1195-1197)Acc>Gcc	p.T399A	UNC80_ENST00000272845.6_Missense_Mutation_p.T399A	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	399					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CACCCACAAAACCCAAGTAAG	0.488																																																	0								ENSG00000144406						57.0	56.0	56.0					2																	210678560		692	1591	2283	UNC80	SO:0001583	missense	0			-	HGNC	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.1195A>G	2.37:g.210678560A>G	ENSP00000391088:p.Thr399Ala	Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T399A	ENST00000439458.1	37	c.1195	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296924	0.81025	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.33438	1.41;1.41	5.7	5.7	0.88788	.	.	.	.	.	T	0.40297	0.1111	N	0.24115	0.695	0.80722	D	1	D	0.61697	0.99	D	0.73380	0.98	T	0.15235	-1.0444	9	0.21014	T	0.42	-6.3061	15.9648	0.79961	1.0:0.0:0.0:0.0	.	399	Q8N2C7	UNC80_HUMAN	A	399	ENSP00000391088:T399A;ENSP00000272845:T399A	ENSP00000272845:T399A	T	+	1	0	UNC80	210386805	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	9.222000	0.95196	2.175000	0.68902	0.383000	0.25322	ACC	-	NULL		0.488	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	protein_coding		A	NM_182587	-		210678560	+1	no_errors	ENST00000439458	ensembl	human	known	74_37	missense	SNP	1.000	G
SYCE1	93426	genome.wustl.edu	37	10	135371703	135371703	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:135371703A>T	ENST00000343131.5	-	5	391	c.287T>A	c.(286-288)gTa>gAa	p.V96E	SYCE1_ENST00000432597.2_Missense_Mutation_p.V60E|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000368517.3_Missense_Mutation_p.V60E	NM_001143764.1	NP_001137236.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	96					synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTTCAGGTGTACTTTCTCTCC	0.522																																																	0								ENSG00000171772						200.0	152.0	168.0					10																	135371703		2203	4300	6503	SYCE1	SO:0001583	missense	0			-	HGNC	AY027808	CCDS7687.1, CCDS44500.1, CCDS44501.1	10q26.3	2009-03-12	2005-09-27	2005-09-27	ENSG00000171772	ENSG00000171772			28852	protein-coding gene	gene with protein product	"""cancer/testis antigen 76"""	611486	"""chromosome 10 open reading frame 94"""	C10orf94		11829491	Standard	NM_130784		Approved	bA108K14.6, CT76	uc001lno.2	Q8N0S2	OTTHUMG00000019321	ENST00000343131.5:c.287T>A	10.37:g.135371703A>T	ENSP00000341282:p.Val96Glu	Somatic	0	91	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	26	21.21	B2RC80|Q9BWU3|Q9BWU4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V96E	ENST00000343131.5	37	c.287	CCDS44501.1	10	.	.	.	.	.	.	.	.	.	.	A	17.44	3.390783	0.62066	.	.	ENSG00000171772	ENST00000303903;ENST00000432597;ENST00000368517;ENST00000343131	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	4.54	2.17	0.27698	.	0.465346	0.19985	N	0.101686	T	0.42810	0.1219	L	0.61218	1.895	0.27049	N	0.963834	P;P	0.51351	0.944;0.904	P;P	0.52957	0.714;0.571	T	0.29518	-1.0009	10	0.72032	D	0.01	-0.6934	6.2582	0.20885	0.8027:0.0:0.1973:0.0	.	96;60	Q8N0S2;Q8N0S2-2	SYCE1_HUMAN;.	E	96;60;60;96	ENSP00000303978:V96E;ENSP00000411779:V60E;ENSP00000357503:V60E;ENSP00000341282:V96E	ENSP00000303978:V96E	V	-	2	0	SYCE1	135221693	0.154000	0.22792	0.709000	0.30452	0.957000	0.61999	-0.103000	0.10940	0.481000	0.27557	0.533000	0.62120	GTA	-	NULL		0.522	SYCE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYCE1	protein_coding		A	NM_201564	-		135371703	-1	no_errors	ENST00000343131	ensembl	human	known	74_37	missense	SNP	0.759	T
XPO7	23039	genome.wustl.edu	37	8	21837635	21837635	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:21837635C>T	ENST00000252512.9	+	9	978	c.878C>T	c.(877-879)tCc>tTc	p.S293F	XPO7_ENST00000433566.4_Missense_Mutation_p.S294F|XPO7_ENST00000434536.1_Missense_Mutation_p.S302F	NM_015024.4	NP_055839.3	Q9UIA9	XPO7_HUMAN	exportin 7	293				Missing (in Ref. 3; BAA34465). {ECO:0000305}.	mRNA transport (GO:0051028)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	nuclear export signal receptor activity (GO:0005049)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GTCAGAAGATCCCTGTTTAAC	0.403																																																	0								ENSG00000130227						123.0	115.0	118.0					8																	21837635		1914	4125	6039	XPO7	SO:0001583	missense	0			-	HGNC	AF064729	CCDS47818.1	8p21	2011-04-13	2003-03-11	2003-03-14	ENSG00000130227	ENSG00000130227		"""Exportins"""	14108	protein-coding gene	gene with protein product		606140	"""RAN binding protein 16"""	RANBP16		11024021, 9872452	Standard	NM_015024		Approved	KIAA0745	uc003xaa.4	Q9UIA9	OTTHUMG00000163789	ENST00000252512.9:c.878C>T	8.37:g.21837635C>T	ENSP00000252512:p.Ser293Phe	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O94846|Q6PJK9|Q8NEK7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.S302F	ENST00000252512.9	37	c.905	CCDS47818.1	8	.	.	.	.	.	.	.	.	.	.	C	31	5.101243	0.94245	.	.	ENSG00000130227	ENST00000434536;ENST00000252512;ENST00000433566	T;T;T	0.51071	0.72;0.72;0.72	5.57	5.57	0.84162	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78007	0.4216	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.99;0.99;0.99	D	0.83770	0.0219	10	0.87932	D	0	-12.7012	19.1654	0.93555	0.0:1.0:0.0:0.0	.	294;302;293	E7ESC6;E9PEN8;Q9UIA9	.;.;XPO7_HUMAN	F	302;293;294	ENSP00000404853:S302F;ENSP00000252512:S293F;ENSP00000410249:S294F	ENSP00000252512:S293F	S	+	2	0	XPO7	21893581	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.622000	0.88805	0.655000	0.94253	TCC	-	superfamily_ARM-type_fold		0.403	XPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO7	protein_coding	OTTHUMT00000375494.1	C	NM_015024	-		21837635	+1	no_errors	ENST00000434536	ensembl	human	known	74_37	missense	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113694814	113694814	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:113694814C>T	ENST00000297405.5	-	16	2778	c.2534G>A	c.(2533-2535)cGg>cAg	p.R845Q	CSMD3_ENST00000455883.2_Missense_Mutation_p.R741Q|CSMD3_ENST00000352409.3_Missense_Mutation_p.R845Q|CSMD3_ENST00000343508.3_Missense_Mutation_p.R805Q	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	845	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTCCCCAAACCGCCGTGCATT	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						103.0	103.0	103.0					8																	113694814		2203	4300	6503	CSMD3	SO:0001583	missense	0			-	HGNC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2534G>A	8.37:g.113694814C>T	ENSP00000297405:p.Arg845Gln	Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q96PZ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R845Q	ENST00000297405.5	37	c.2534	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	35	5.496907	0.96355	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.58	5.58	0.84498	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	T	0.79387	0.4437	M	0.75150	2.29	0.39438	D	0.967197	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.998;0.999	T	0.76621	-0.2892	10	0.28530	T	0.3	.	19.557	0.95354	0.0:1.0:0.0:0.0	.	741;845;805	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Q	805;845;185;741;845	ENSP00000345799:R805Q;ENSP00000297405:R845Q;ENSP00000341558:R185Q;ENSP00000412263:R741Q;ENSP00000343124:R845Q	ENSP00000297405:R845Q	R	-	2	0	CSMD3	113763990	1.000000	0.71417	0.760000	0.31359	0.997000	0.91878	7.818000	0.86416	2.623000	0.88846	0.650000	0.86243	CGG	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	C	NM_052900	-		113694814	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	SNP	0.974	T
F2	2147	genome.wustl.edu	37	11	46750994	46750994	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:46750994G>A	ENST00000311907.5	+	12	1593	c.1537G>A	c.(1537-1539)Gcc>Acc	p.A513T	F2_ENST00000530231.1_Missense_Mutation_p.A474T	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	513	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	GACGTGGACAGCCAACGTTGG	0.617																																					Esophageal Squamous(147;1147 1808 2148 38609 51144)												0								ENSG00000180210						116.0	97.0	103.0					11																	46750994		2201	4299	6500	F2	SO:0001583	missense	0			-	HGNC	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1537G>A	11.37:g.46750994G>A	ENSP00000308541:p.Ala513Thr	Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	40	11.11	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_Kringle,pfam_Thrombin_light_chain,pfam_GLA_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,superfamily_GLA_domain,smart_GLA_domain,smart_Kringle,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_GLA_domain,pfscan_Kringle,pfscan_Peptidase_S1,prints_Prothrombin/thrombin,prints_Peptidase_S1A,prints_GLA_domain	p.A513T	ENST00000311907.5	37	c.1537	CCDS31476.1	11	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.251746	0.00268	.	.	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.88431	-2.38;-2.38	5.76	-11.5	0.00074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.292640	0.04726	N	0.420179	T	0.74215	0.3687	N	0.17723	0.515	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.63821	-0.6550	10	0.87932	D	0	.	2.1362	0.03763	0.44:0.1255:0.1215:0.3131	.	513	P00734	THRB_HUMAN	T	513;474	ENSP00000308541:A513T;ENSP00000433907:A474T	ENSP00000308541:A513T	A	+	1	0	F2	46707570	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.989000	0.01480	-3.780000	0.00108	-3.078000	0.00066	GCC	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pirsf_Prothrombin/thrombin,pfscan_Peptidase_S1		0.617	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F2	protein_coding	OTTHUMT00000317706.1	G		-		46750994	+1	no_errors	ENST00000311907	ensembl	human	known	74_37	missense	SNP	0.000	A
KIF2B	84643	genome.wustl.edu	37	17	51902398	51902398	+	Silent	SNP	G	G	A	rs567529647	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:51902398G>A	ENST00000268919.4	+	1	2160	c.2004G>A	c.(2002-2004)gtG>gtA	p.V668V		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	668					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCTCCACGTGAAGAGCAAGG	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		19360	0.0		0.0	False		,,,				2504	0.002																0								ENSG00000141200						50.0	50.0	50.0					17																	51902398		2203	4300	6503	KIF2B	SO:0001819	synonymous_variant	0			-	HGNC	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.2004G>A	17.37:g.51902398G>A		Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	16	23.81	Q96MA2|Q9BXG6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V668	ENST00000268919.4	37	c.2004	CCDS32685.1	17																																																																																			-	NULL		0.433	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	protein_coding	OTTHUMT00000438854.1	G	NM_032559	-		51902398	+1	no_errors	ENST00000268919	ensembl	human	known	74_37	silent	SNP	0.345	A
TCOF1	6949	genome.wustl.edu	37	5	149758815	149758815	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:149758815C>T	ENST00000504761.2	+	16	2502	c.2502C>T	c.(2500-2502)ccC>ccT	p.P834P	TCOF1_ENST00000513346.1_Silent_p.P834P|TCOF1_ENST00000439160.2_Silent_p.P834P|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000451292.1_Silent_p.P834P|TCOF1_ENST00000377797.3_Silent_p.P834P|TCOF1_ENST00000394269.3_Silent_p.P834P|TCOF1_ENST00000445265.2_Silent_p.P757P|TCOF1_ENST00000323668.7_Silent_p.P757P			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	834					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGAAACCCCCAGAACAGTA	0.572																																																	0								ENSG00000070814						85.0	97.0	93.0					5																	149758815		2203	4300	6503	TCOF1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.2502C>T	5.37:g.149758815C>T		Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	15	62.50	A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.P834	ENST00000504761.2	37	c.2502	CCDS54936.1	5																																																																																			-	pfam_TCS_treacle		0.572	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	protein_coding	OTTHUMT00000380552.1	C	NM_001008656	-		149758815	+1	no_errors	ENST00000451292	ensembl	human	known	74_37	silent	SNP	0.159	T
ESPN	83715	genome.wustl.edu	37	1	6520710	6520710	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:6520710C>T	ENST00000377828.1	+	0	3237				ESPN_ENST00000461727.1_3'UTR|ESPN_ENST00000416731.1_3'UTR|TNFRSF25_ENST00000461703.2_5'Flank	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin						locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CATTTCTTATCCCCGCCAAGG	0.632																																																	0								ENSG00000187017																																			ESPN	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.*504C>T	1.37:g.6520710C>T		Somatic	0	122	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	57	25.00	Q6XYB2|Q9H0A2|Q9Y329	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000377828.1	37	NULL	CCDS70.1	1																																																																																			-	-		0.632	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	protein_coding	OTTHUMT00000001887.3	C	NM_031475	-		6520710	+1	no_errors	ENST00000468561	ensembl	human	known	74_37	rna	SNP	0.361	T
RAB2A	5862	genome.wustl.edu	37	8	61496781	61496781	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:61496781C>T	ENST00000262646.7	+	4	552	c.201C>T	c.(199-201)tcC>tcT	p.S67S	RAB2A_ENST00000531289.1_Silent_p.S43S|RAB2A_ENST00000530071.1_3'UTR|RAB2A_ENST00000529579.1_Silent_p.S67S	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	67					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGCAAGAATCCTTTCGTTCCA	0.378																																																	0								ENSG00000104388						141.0	143.0	142.0					8																	61496781		2203	4300	6503	RAB2A	SO:0001819	synonymous_variant	0			-	HGNC		CCDS6175.1, CCDS56537.1	8q12.1	2007-01-15	2007-01-15	2007-01-15	ENSG00000104388	ENSG00000104388		"""RAB, member RAS oncogene"""	9763	protein-coding gene	gene with protein product		179509	"""RAB2, member RAS oncogene family"""	RAB2			Standard	NM_002865		Approved		uc003xud.2	P61019	OTTHUMG00000134298	ENST00000262646.7:c.201C>T	8.37:g.61496781C>T		Somatic	0	106	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	55	17.91	B2R5W8|B4DMQ5|P08886	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S67	ENST00000262646.7	37	c.201	CCDS6175.1	8																																																																																			-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.378	RAB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB2A	protein_coding	OTTHUMT00000259145.2	C		-		61496781	+1	no_errors	ENST00000262646	ensembl	human	known	74_37	silent	SNP	1.000	T
PHLDB1	23187	genome.wustl.edu	37	11	118520812	118520812	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:118520812C>T	ENST00000361417.2	+	20	4096	c.3685C>T	c.(3685-3687)Cgg>Tgg	p.R1229W	PHLDB1_ENST00000524713.1_Missense_Mutation_p.R372W|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.R280W|PHLDB1_ENST00000356063.5_Missense_Mutation_p.R1182W	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1229										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCTGCCAATCCGGAAGGAGGA	0.582																																																	0								ENSG00000019144						107.0	95.0	99.0					11																	118520812		2200	4295	6495	PHLDB1	SO:0001583	missense	0			-	HGNC		CCDS8401.1, CCDS44750.1	11q23.3	2013-01-10			ENSG00000019144	ENSG00000019144		"""Pleckstrin homology (PH) domain containing"""	23697	protein-coding gene	gene with protein product		612834				14532993	Standard	NM_015157		Approved	FLJ00141, LL5a, KIAA0638	uc001pts.3	Q86UU1	OTTHUMG00000166341	ENST00000361417.2:c.3685C>T	11.37:g.118520812C>T	ENSP00000354498:p.Arg1229Trp	Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	B0YJ63|B0YJ64|O75133|Q4KMF8|Q8TEQ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pleckstrin_homology,superfamily_SMAD_FHA_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R1229W	ENST00000361417.2	37	c.3685	CCDS8401.1	11	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692569	0.88735	.	.	ENSG00000019144	ENST00000361417;ENST00000361465;ENST00000358191;ENST00000356063;ENST00000527898;ENST00000524713	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	D	0.88119	0.6351	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.982;0.996;0.996;0.991	D	0.89501	0.3764	10	0.72032	D	0.01	-26.6859	18.331	0.90268	0.0:1.0:0.0:0.0	.	593;988;1182;1229	B0YJ65;Q5W9G0;Q86UU1-2;Q86UU1	.;.;.;PHLB1_HUMAN	W	1229;1003;593;1182;280;372	ENSP00000354498:R1229W;ENSP00000348359:R1182W;ENSP00000435388:R280W;ENSP00000434905:R372W	ENSP00000348359:R1182W	R	+	1	2	PHLDB1	118026022	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	2.197000	0.42696	2.328000	0.79073	0.655000	0.94253	CGG	-	NULL		0.582	PHLDB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB1	protein_coding	OTTHUMT00000389279.1	C	NM_015157	-		118520812	+1	no_errors	ENST00000361417	ensembl	human	known	74_37	missense	SNP	1.000	T
RLIM	51132	genome.wustl.edu	37	X	73812544	73812544	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:73812544G>A	ENST00000332687.6	-	4	824	c.606C>T	c.(604-606)gtC>gtT	p.V202V	RLIM_ENST00000349225.2_Silent_p.V202V	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	202					negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGGTAGGTGGGACCTCTGTTA	0.493																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0								ENSG00000131263						182.0	152.0	162.0					X																	73812544		2203	4300	6503	RLIM	SO:0001819	synonymous_variant	0			-	HGNC	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.606C>T	X.37:g.73812544G>A		Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	6	60.00	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V202	ENST00000332687.6	37	c.606	CCDS14427.1	X																																																																																			-	NULL		0.493	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	protein_coding	OTTHUMT00000057268.1	G	NM_016120	-		73812544	-1	no_errors	ENST00000332687	ensembl	human	known	74_37	silent	SNP	0.000	A
CENPF	1063	genome.wustl.edu	37	1	214828746	214828746	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:214828746G>A	ENST00000366955.3	+	17	8653	c.8485G>A	c.(8485-8487)Ggt>Agt	p.G2829S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2925	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCAGAAAACAGGTGGGTGTTA	0.423																																					Colon(80;575 1284 11000 14801 43496)												0								ENSG00000117724						59.0	59.0	59.0					1																	214828746		2203	4300	6503	CENPF	SO:0001630	splice_region_variant	0			-	HGNC	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.8485+1G>A	1.37:g.214828746G>A		Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd	p.G2829S	ENST00000366955.3	37	c.8485	CCDS31023.1	1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785941	0.49997	.	.	ENSG00000117724	ENST00000366955	T	0.03181	4.02	5.81	4.8	0.61643	.	0.237970	0.21786	N	0.069136	T	0.04363	0.0120	L	0.53249	1.67	0.58432	D	0.999999	P	0.46784	0.884	B	0.41374	0.355	T	0.46219	-0.9207	10	0.09084	T	0.74	.	10.0001	0.41924	0.1221:0.0:0.8779:0.0	.	2925	P49454	CENPF_HUMAN	S	2829	ENSP00000355922:G2829S	ENSP00000355922:G2829S	G	+	1	0	CENPF	212895369	1.000000	0.71417	0.998000	0.56505	0.813000	0.45954	2.484000	0.45242	2.736000	0.93811	0.655000	0.94253	GGT	-	NULL		0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPF	protein_coding	OTTHUMT00000089749.1	G	NM_016343	-	Missense_Mutation	214828746	+1	no_errors	ENST00000366955	ensembl	human	known	74_37	missense	SNP	0.994	A
C19orf25	148223	genome.wustl.edu	37	19	1482406	1482406	+	5'Flank	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:1482406G>A	ENST00000436106.2	-	0	0				PCSK4_ENST00000300954.5_Missense_Mutation_p.P589S|CTB-25B13.6_ENST00000585643.1_RNA			Q9UFG5	CS025_HUMAN	chromosome 19 open reading frame 25														Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCACCTGGGGGCCTGTAGGC	0.711																																																	0								ENSG00000115257						21.0	22.0	21.0					19																	1482406		2200	4299	6499	PCSK4	SO:0001631	upstream_gene_variant	0			-	HGNC	AK075267	CCDS45898.1	19p13.3	2012-10-24			ENSG00000119559	ENSG00000119559			26711	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_152482		Approved	FLJ36666	uc010dsk.3	Q9UFG5	OTTHUMG00000180092		19.37:g.1482406G>A	Exception_encountered	Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	70	9.09	B3KQN6|Q8N9R7|Q8WV94	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel	p.P589S	ENST00000436106.2	37	c.1765	CCDS45898.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.30|13.30	2.195076|2.195076	0.38806|0.38806	.|.	.|.	ENSG00000115257|ENSG00000115257	ENST00000441747|ENST00000300954	.|T	.|0.69561	.|-0.41	3.69|3.69	-0.52|-0.52	0.11935|0.11935	.|.	0.924705|0.924705	0.08773|0.08773	U|U	0.895919|0.895919	T|T	0.52386|0.52386	0.1731|0.1731	L|L	0.50333|0.50333	1.59|1.59	0.26109|0.26109	N|N	0.980715|0.980715	B|B	0.10296|0.16396	0.003|0.017	B|B	0.06405|0.09377	0.002|0.004	T|T	0.36744|0.36744	-0.9735|-0.9735	9|10	0.87932|0.26408	D|T	0|0.33	.|.	2.5627|2.5627	0.04776|0.04776	0.3079:0.0:0.4721:0.22|0.3079:0.0:0.4721:0.22	.|.	359|589	B3KQ28|Q6UW60	.|PCSK4_HUMAN	L|S	359|589	.|ENSP00000300954:P589S	ENSP00000402772:P359L|ENSP00000300954:P589S	P|P	-|-	2|1	0|0	PCSK4|PCSK4	1433406|1433406	0.004000|0.004000	0.15560|0.15560	0.917000|0.917000	0.36280|0.36280	0.050000|0.050000	0.14768|0.14768	-0.609000|-0.609000	0.05635|0.05635	0.230000|0.230000	0.21059|0.21059	-0.379000|-0.379000	0.06801|0.06801	CCC|CCC	-	NULL		0.711	C19orf25-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCSK4	protein_coding	OTTHUMT00000449694.1	G	NM_152482	-		1482406	-1	no_errors	ENST00000300954	ensembl	human	known	74_37	missense	SNP	0.872	A
TMPRSS6	164656	genome.wustl.edu	37	22	37499331	37499331	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:37499331G>A	ENST00000346753.3	-	2	270	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.R43C|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R52C|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R43C|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R43C	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	52					angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGCACCAGGCGGAGGTAGCCC	0.657																																																	0								ENSG00000187045						63.0	69.0	67.0					22																	37499331		2203	4300	6503	TMPRSS6	SO:0001583	missense	0			-	HGNC	AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.154C>T	22.37:g.37499331G>A	ENSP00000334962:p.Arg52Cys	Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.R43C	ENST00000346753.3	37	c.127	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515109	0.27123	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856;ENST00000442782;ENST00000423761	D;D;D;D;T;D	0.92397	-3.03;-3.02;-3.02;-3.03;-1.06;-2.68	4.39	2.3	0.28687	.	0.403681	0.26203	N	0.025731	D	0.85873	0.5798	L	0.41710	1.295	0.51012	D	0.999904	B;B;B	0.14012	0.009;0.009;0.005	B;B;B	0.12156	0.007;0.001;0.001	T	0.80795	-0.1223	10	0.87932	D	0	.	5.8617	0.18752	0.2361:0.0:0.7639:0.0	.	52;43;52	Q8IU80-2;Q8IU80-5;Q8IU80	.;.;TMPS6_HUMAN	C	43;52;43;43;52;43	ENSP00000371211:R43C;ENSP00000334962:R52C;ENSP00000385453:R43C;ENSP00000384964:R43C;ENSP00000397691:R52C;ENSP00000400317:R43C	ENSP00000334962:R52C	R	-	1	0	TMPRSS6	35829277	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	1.248000	0.32827	0.850000	0.35239	0.549000	0.68633	CGC	-	pirsf_Pept_S1A_matriptase-2		0.657	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	protein_coding	OTTHUMT00000318822.1	G	NM_153609	-		37499331	-1	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	SNP	0.999	A
C3orf20	84077	genome.wustl.edu	37	3	14756898	14756898	+	Silent	SNP	G	G	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:14756898G>C	ENST00000253697.3	+	9	1868	c.1416G>C	c.(1414-1416)ctG>ctC	p.L472L	C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000435614.1_Silent_p.L350L|C3orf20_ENST00000412910.1_Silent_p.L350L	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	472						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CAGAGACCCTGCTTTCCCTGG	0.562																																																	0								ENSG00000131379						103.0	88.0	93.0					3																	14756898		2203	4300	6503	C3orf20	SO:0001819	synonymous_variant	0			-	HGNC	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1416G>C	3.37:g.14756898G>C		Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	52	10.34	Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L472	ENST00000253697.3	37	c.1416	CCDS33706.1	3																																																																																			-	NULL		0.562	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	protein_coding	OTTHUMT00000340586.1	G	NM_032137	-		14756898	+1	no_errors	ENST00000253697	ensembl	human	known	74_37	silent	SNP	0.775	C
MCF2L	23263	genome.wustl.edu	37	13	113743994	113743994	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:113743994G>A	ENST00000375608.3	+	27	3053	c.2995G>A	c.(2995-2997)Gga>Aga	p.G999R	MCF2L_ENST00000434480.2_Missense_Mutation_p.G975R|MCF2L_ENST00000375597.4_Missense_Mutation_p.G967R|MCF2L_ENST00000421756.1_Missense_Mutation_p.G973R|MCF2L_ENST00000375601.3_Missense_Mutation_p.G973R|MCF2L_ENST00000535094.2_Missense_Mutation_p.G969R|MCF2L_ENST00000397030.1_Missense_Mutation_p.G1002R|MCF2L_ENST00000375604.2_Missense_Mutation_p.G1026R|MCF2L_ENST00000442652.2_Missense_Mutation_p.G999R|MCF2L_ENST00000423482.2_Missense_Mutation_p.G967R			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	999					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AAGCCTGGAGGGATACGTCAG	0.537																																																	0								ENSG00000126217						92.0	78.0	83.0					13																	113743994		2203	4300	6503	MCF2L	SO:0001583	missense	0			-	HGNC	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2995G>A	13.37:g.113743994G>A	ENSP00000364758:p.Gly999Arg	Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	8	61.90	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G1026R	ENST00000375608.3	37	c.3076		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.727527|2.727527	0.48833|0.48833	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000397017;ENST00000453297;ENST00000439475|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.35973	.|1.33;1.33;1.28;1.36;1.3;1.36;1.29;1.33;1.3;1.33	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.412717|0.412717	0.23866|0.23866	N|N	0.043793|0.043793	T|T	0.53481|0.53481	0.1799|0.1799	M|M	0.70595|0.70595	2.14|2.14	0.45439|0.45439	D|D	0.998418|0.998418	.|P;P;D;P;P	.|0.53151	.|0.889;0.889;0.958;0.906;0.823	.|P;P;P;P;B	.|0.56612	.|0.637;0.637;0.755;0.802;0.434	T|T	0.55101|0.55101	-0.8193|-0.8193	6|9	.|.	.|.	.|.	.|.	15.8446|15.8446	0.78876|0.78876	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|967;969;1026;967;999	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	E|R	629;123;74|999;999;1026;1002;969;973;973;975;967;967;810	.|ENSP00000364758:G999R;ENSP00000401422:G999R;ENSP00000364754:G1026R;ENSP00000380225:G1002R;ENSP00000440374:G969R;ENSP00000397285:G973R;ENSP00000364751:G973R;ENSP00000407722:G975R;ENSP00000405639:G967R;ENSP00000364747:G967R	.|.	G|G	+|+	2|1	0|0	MCF2L|MCF2L	112791995|112791995	1.000000|1.000000	0.71417|0.71417	0.682000|0.682000	0.30024|0.30024	0.011000|0.011000	0.07611|0.07611	3.483000|3.483000	0.53194|0.53194	2.147000|2.147000	0.66899|0.66899	0.563000|0.563000	0.77884|0.77884	GGG|GGA	-	NULL		0.537	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	protein_coding	OTTHUMT00000045849.4	G		-		113743994	+1	no_errors	ENST00000375604	ensembl	human	known	74_37	missense	SNP	0.912	A
C14orf37	145407	genome.wustl.edu	37	14	58598416	58598416	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:58598416G>T	ENST00000267485.7	-	4	1839	c.1645C>A	c.(1645-1647)Cca>Aca	p.P549T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	549						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						TCCTCATTTGGCCCTGTGACT	0.478																																																	0								ENSG00000139971						118.0	119.0	119.0					14																	58598416		2203	4300	6503	C14orf37	SO:0001583	missense	0			-	HGNC		CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.1645C>A	14.37:g.58598416G>T	ENSP00000267485:p.Pro549Thr	Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P549T	ENST00000267485.7	37	c.1645	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	2.354	-0.348119	0.05208	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.20881	2.04	5.98	2.84	0.33178	.	0.555420	0.18227	N	0.147685	T	0.13713	0.0332	L	0.35723	1.085	0.09310	N	1	B;B;B;B	0.26258	0.058;0.145;0.024;0.024	B;B;B;B	0.29176	0.04;0.099;0.04;0.04	T	0.21245	-1.0251	10	0.23891	T	0.37	-6.9901	3.2807	0.06915	0.2292:0.0:0.5655:0.2053	.	587;549;549;549	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	T	549;587	ENSP00000267485:P549T	ENSP00000267485:P549T	P	-	1	0	C14orf37	57668169	0.487000	0.25988	0.063000	0.19743	0.515000	0.34225	0.857000	0.27831	0.872000	0.35775	-0.840000	0.03056	CCA	-	NULL		0.478	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	protein_coding	OTTHUMT00000412059.1	G	NM_001001872	-		58598416	-1	no_errors	ENST00000267485	ensembl	human	known	74_37	missense	SNP	0.020	T
ENTPD8	377841	genome.wustl.edu	37	9	140331643	140331643	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:140331643G>A	ENST00000472938.1	-	3	379	c.363C>T	c.(361-363)ttC>ttT	p.F121F	ENTPD8_ENST00000344119.2_Silent_p.F121F|ENTPD8_ENST00000371506.2_Silent_p.F121F			Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	121					nucleoside diphosphate biosynthetic process (GO:0009133)|nucleoside monophosphate biosynthetic process (GO:0009124)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		TGGCCCCCAGGAACGTGGGTG	0.642																																																	0								ENSG00000188833						50.0	51.0	51.0					9																	140331643		2202	4300	6502	ENTPD8	SO:0001819	synonymous_variant	0			-	HGNC	AY359088	CCDS7043.1, CCDS43913.1	9q34.3	2013-09-20			ENSG00000188833	ENSG00000188833			24860	protein-coding gene	gene with protein product	"""GLSR2492"""					12975309	Standard	NM_198585		Approved	UNQ2492, NTPDase-8	uc004cmw.3	Q5MY95	OTTHUMG00000131831	ENST00000472938.1:c.363C>T	9.37:g.140331643G>A		Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	22	24.14	A2BG17|Q6UVZ0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GDA1_CD39_NTPase	p.F121	ENST00000472938.1	37	c.363	CCDS43913.1	9																																																																																			-	pfam_GDA1_CD39_NTPase		0.642	ENTPD8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD8	protein_coding	OTTHUMT00000355991.1	G	NM_198585	-		140331643	-1	no_errors	ENST00000371506	ensembl	human	known	74_37	silent	SNP	1.000	A
DPP10	57628	genome.wustl.edu	37	2	116534785	116534785	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:116534785G>A	ENST00000410059.1	+	14	1703	c.1223G>A	c.(1222-1224)aGt>aAt	p.S408N	DPP10_ENST00000310323.8_Splice_Site_p.S401N|DPP10_ENST00000409163.1_Splice_Site_p.S358N|DPP10_ENST00000393147.2_Splice_Site_p.S412N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	408						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TCTTTGCAGAGTAAAAGTGAG	0.368																																																	0								ENSG00000175497						96.0	94.0	94.0					2																	116534785		2203	4299	6502	DPP10	SO:0001630	splice_region_variant	0			-	HGNC	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1222-1G>A	2.37:g.116534785G>A		Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	33.33	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.S412N	ENST00000410059.1	37	c.1235	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247949	0.39697	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.97	4.03	0.46877	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.439592	0.26935	N	0.021759	T	0.14184	0.0343	N	0.11560	0.145	0.27730	N	0.944832	B;B;B;B	0.32010	0.005;0.351;0.007;0.007	B;B;B;B	0.24541	0.009;0.054;0.015;0.015	T	0.10474	-1.0628	10	0.25106	T	0.35	-11.9316	11.3335	0.49490	0.0:0.2806:0.7194:0.0	.	401;412;404;408	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	408;358;412;401;358	ENSP00000386565:S408N;ENSP00000387038:S358N;ENSP00000376855:S412N;ENSP00000309066:S401N	ENSP00000309066:S401N	S	+	2	0	DPP10	116251255	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.294000	0.51787	2.731000	0.93534	0.655000	0.94253	AGT	-	pfam_Peptidase_S9B		0.368	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	protein_coding	OTTHUMT00000330580.4	G	NM_020868	-	Missense_Mutation	116534785	+1	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	SNP	1.000	A
COL11A1	1301	genome.wustl.edu	37	1	103444272	103444272	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:103444272C>T	ENST00000370096.3	-	35	3058	c.2746G>A	c.(2746-2748)Ggt>Agt	p.G916S	COL11A1_ENST00000512756.1_Missense_Mutation_p.G800S|COL11A1_ENST00000353414.4_Missense_Mutation_p.G877S|COL11A1_ENST00000358392.2_Missense_Mutation_p.G928S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	916	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACTCTTTCACCTGGAGGGCCA	0.383																																																	0								ENSG00000060718						97.0	114.0	109.0					1																	103444272		2201	4299	6500	COL11A1	SO:0001583	missense	0			-	HGNC	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2746G>A	1.37:g.103444272C>T	ENSP00000359114:p.Gly916Ser	Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C	p.G928S	ENST00000370096.3	37	c.2782	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461602	0.84317	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.35	5.35	0.76521	.	0.115973	0.64402	D	0.000016	D	0.99849	0.9930	H	0.97829	4.085	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.991;0.999;0.999;0.998;0.996	D	0.96627	0.9464	10	0.87932	D	0	.	19.0619	0.93096	0.0:1.0:0.0:0.0	.	800;877;928;916;136	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	916;928;877;136;800	ENSP00000359114:G916S;ENSP00000351163:G928S;ENSP00000302551:G877S;ENSP00000426533:G800S	ENSP00000302551:G877S	G	-	1	0	COL11A1	103216860	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.343000	0.79319	2.506000	0.84524	0.655000	0.94253	GGT	-	NULL		0.383	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	protein_coding	OTTHUMT00000029997.1	C	NM_080630	-		103444272	-1	no_errors	ENST00000358392	ensembl	human	known	74_37	missense	SNP	1.000	T
CSHL1	1444	genome.wustl.edu	37	17	61988529	61988529	+	Intron	SNP	G	G	A	rs61762505	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:61988529G>A	ENST00000309894.5	-	1	10				CSHL1_ENST00000392824.4_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1							extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						TGCCCAAAGGGATTTTAGGGG	0.612																																																	0								ENSG00000204414						64.0	66.0	65.0					17																	61988529		2203	4300	6503	CSHL1	SO:0001627	intron_variant	0			-	HGNC	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.10+17C>T	17.37:g.61988529G>A		Somatic	0	160	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	51	25.00	D3DU26|D3DU27|Q0VDB2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000309894.5	37	NULL	CCDS11652.1	17																																																																																			-	-		0.612	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	CSHL1	protein_coding	OTTHUMT00000444557.1	G	NM_022579	-		61988529	-1	no_errors	ENST00000558099	ensembl	human	known	74_37	rna	SNP	0.006	A
TNN	63923	genome.wustl.edu	37	1	175063125	175063125	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:175063125G>A	ENST00000239462.4	+	7	1437		c.e7-1			NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N						axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTTTTATGAAGAAATTGACAG	0.408																																																	0								ENSG00000120332						79.0	76.0	77.0					1																	175063125		2203	4300	6503	TNN	SO:0001630	splice_region_variant	0			-	HGNC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.1325-1G>A	1.37:g.175063125G>A		Somatic	0	26	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	B9EGP3|Q5R360	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e6-1	ENST00000239462.4	37	c.1325-1	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398466	0.62177	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	.	.	.	4.86	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.419	0.32690	0.1058:0.0:0.8942:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TNN	173329748	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	8.375000	0.90135	2.408000	0.81797	0.563000	0.77884	.	-	-		0.408	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	protein_coding	OTTHUMT00000084422.1	G	XM_040527	-	Intron	175063125	+1	no_errors	ENST00000239462	ensembl	human	known	74_37	splice_site	SNP	1.000	A
MYO5C	55930	genome.wustl.edu	37	15	52517672	52517672	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:52517672C>T	ENST00000261839.7	-	26	3426	c.3265G>A	c.(3265-3267)Gag>Aag	p.E1089K		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1089						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACATGTTTCTCCACATCTATC	0.398																																																	0								ENSG00000128833						255.0	229.0	237.0					15																	52517672		1897	4122	6019	MYO5C	SO:0001583	missense	0			-	HGNC	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3265G>A	15.37:g.52517672C>T	ENSP00000261839:p.Glu1089Lys	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	27	34.15	Q6P1W8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1089K	ENST00000261839.7	37	c.3265	CCDS42036.1	15	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942059	0.92526	.	.	ENSG00000128833	ENST00000261839	T	0.15487	2.42	5.83	5.83	0.93111	.	0.059335	0.64402	D	0.000003	T	0.15003	0.0362	N	0.19112	0.55	0.80722	D	1	B	0.28378	0.209	B	0.29176	0.099	T	0.07597	-1.0764	10	0.33940	T	0.23	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	1089	Q9NQX4	MYO5C_HUMAN	K	1089	ENSP00000261839:E1089K	ENSP00000261839:E1089K	E	-	1	0	MYO5C	50304964	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.599000	0.67592	2.770000	0.95276	0.655000	0.94253	GAG	-	NULL		0.398	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO5C	protein_coding	OTTHUMT00000419562.1	C	NM_018728	-		52517672	-1	no_errors	ENST00000261839	ensembl	human	known	74_37	missense	SNP	1.000	T
MFAP3L	9848	genome.wustl.edu	37	4	170912851	170912851	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:170912851G>A	ENST00000361618.3	-	3	1215	c.908C>T	c.(907-909)tCg>tTg	p.S303L	RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.S200L	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TGAGGCGTCCGAGTCAGCGGC	0.572																																																	0								ENSG00000198948						57.0	52.0	54.0					4																	170912851		2203	4300	6503	MFAP3L	SO:0001583	missense	0			-	HGNC	AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.908C>T	4.37:g.170912851G>A	ENSP00000354583:p.Ser303Leu	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S303L	ENST00000361618.3	37	c.908	CCDS34103.1	4	.	.	.	.	.	.	.	.	.	.	G	17.52	3.410022	0.62399	.	.	ENSG00000198948	ENST00000393704;ENST00000361618	D;D	0.99121	-5.45;-2.63	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.99086	0.9686	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99910	1.1198	10	0.87932	D	0	-39.2895	19.4623	0.94922	0.0:0.0:1.0:0.0	.	303	O75121	MFA3L_HUMAN	L	200;303	ENSP00000377307:S200L;ENSP00000354583:S303L	ENSP00000354583:S303L	S	-	2	0	MFAP3L	171149426	1.000000	0.71417	0.928000	0.36995	0.016000	0.09150	9.803000	0.99136	2.591000	0.87537	0.650000	0.86243	TCG	-	NULL		0.572	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	protein_coding	OTTHUMT00000363043.2	G	NM_021647	-		170912851	-1	no_errors	ENST00000361618	ensembl	human	known	74_37	missense	SNP	1.000	A
ODF1	4956	genome.wustl.edu	37	8	103573038	103573038	+	Missense_Mutation	SNP	T	T	A	rs58232162|rs386728348		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:103573038T>A	ENST00000285402.3	+	2	835	c.679T>A	c.(679-681)Tgc>Agc	p.C227S	ODF1_ENST00000518835.1_Missense_Mutation_p.C20S	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	227	C-X-P repeat region.		Missing. {ECO:0000269|PubMed:8111388}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			ctgcaacccgtgcagcccATA	0.542																																																	0								ENSG00000155087						60.0	73.0	69.0					8																	103573038		2187	4300	6487	ODF1	SO:0001583	missense	0			-	HGNC	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.679T>A	8.37:g.103573038T>A	ENSP00000285402:p.Cys227Ser	Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	36	23.40	Q3SX72	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_a-crystallin/Hsp20_dom,superfamily_HSP20-like_chaperone,pfscan_a-crystallin/Hsp20_dom	p.C227S	ENST00000285402.3	37	c.679	CCDS6293.1	8	.	.	.	.	.	.	.	.	.	.	T	11.44	1.639490	0.29157	.	.	ENSG00000155087	ENST00000285402;ENST00000518835	D;T	0.83163	-1.69;1.68	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000019	T	0.79701	0.4491	L	0.57536	1.79	0.29426	N	0.86024	P	0.41232	0.743	B	0.38056	0.264	T	0.80518	-0.1347	10	0.87932	D	0	-18.0492	12.0125	0.53295	0.0:0.0:0.0:1.0	.	227	Q14990	ODFP1_HUMAN	S	227;20	ENSP00000285402:C227S;ENSP00000430023:C20S	ENSP00000285402:C227S	C	+	1	0	ODF1	103642214	0.983000	0.35010	0.901000	0.35422	0.066000	0.16364	3.874000	0.56101	2.106000	0.64143	0.528000	0.53228	TGC	-	NULL		0.542	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODF1	protein_coding	OTTHUMT00000379884.1	T		-		103573038	+1	no_errors	ENST00000285402	ensembl	human	known	74_37	missense	SNP	0.552	A
TGM1	7051	genome.wustl.edu	37	14	24731502	24731502	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:24731502G>A	ENST00000206765.6	-	2	180	c.57C>T	c.(55-57)ccC>ccT	p.P19P	TGM1_ENST00000544573.1_5'UTR	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	19	Membrane anchorage region.				cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCGTGGTAGGGGGCTGCAAGG	0.632																																																	0								ENSG00000092295						58.0	50.0	52.0					14																	24731502		2203	4300	6503	TGM1	SO:0001819	synonymous_variant	0			-	HGNC	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.57C>T	14.37:g.24731502G>A		Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	B4DWR7|Q197M4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.P19	ENST00000206765.6	37	c.57	CCDS9622.1	14																																																																																			-	NULL		0.632	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM1	protein_coding	OTTHUMT00000073160.6	G	NM_000359	-		24731502	-1	no_errors	ENST00000206765	ensembl	human	known	74_37	silent	SNP	0.901	A
PPP2R3B	28227	genome.wustl.edu	37	X	295211	295211	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:295211G>A	ENST00000390665.3	-	13	1637	c.1619C>T	c.(1618-1620)gCg>gTg	p.A540V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	540					cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGCGCAGCGCACTCAGCTT	0.697													G|||	2	0.000399361	0.0015	0.0	5008	,	,		12632	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000167393	G	VAL/ALA	10,4364		0,10,2177	18.0	22.0	21.0		1619	-0.0	0.1	X	dbSNP_134	21	1,8547		0,1,4273	no	missense	PPP2R3B	NM_013239.4	64	0,11,6450	AA,AG,GG		0.0117,0.2286,0.0851	benign	540/576	295211	11,12911	2187	4274	6461	PPP2R3B	SO:0001583	missense	0			-	HGNC	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1619C>T	X.37:g.295211G>A	ENSP00000375080:p.Ala540Val	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q6P4G9|Q7RTT1|Q96H01	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfscan_EF_hand_dom	p.A540V	ENST00000390665.3	37	c.1619	CCDS14104.1	X	.	.	.	.	.	.	.	.	.	.	G	6.833	0.522793	0.13066	0.002286	1.17E-4	ENSG00000167393	ENST00000390665	T	0.23348	1.91	1.22	-0.00733	0.14009	.	411.325000	0.00721	N	0.000882	T	0.12817	0.0311	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.13361	-1.0512	10	0.27082	T	0.32	.	2.6892	0.05116	0.2309:0.3063:0.4628:0.0	.	540	Q9Y5P8	P2R3B_HUMAN	V	540	ENSP00000375080:A540V	ENSP00000375080:A540V	A	-	2	0	PPP2R3B	215211	0.001000	0.12720	0.111000	0.21465	0.667000	0.39255	0.625000	0.24477	-0.274000	0.09232	0.460000	0.39030	GCG	-	NULL		0.697	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R3B	protein_coding	OTTHUMT00000055577.2	G	NM_013239	-		295211	-1	no_errors	ENST00000390665	ensembl	human	known	74_37	missense	SNP	0.011	A
PLXNB2	23654	genome.wustl.edu	37	22	50719043	50719043	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50719043G>A	ENST00000449103.1	-	25	4190	c.4050C>T	c.(4048-4050)ttC>ttT	p.F1350F	PLXNB2_ENST00000359337.4_Silent_p.F1350F|PLXNB2_ENST00000496720.1_5'Flank			O15031	PLXB2_HUMAN	plexin B2	1350					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACGCGAAGTAGACCT	0.642																																																	0								ENSG00000196576						60.0	67.0	65.0					22																	50719043		2155	4247	6402	PLXNB2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.4050C>T	22.37:g.50719043G>A		Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6QRH0|Q7KZU3|Q9BSU7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.F1350	ENST00000449103.1	37	c.4050	CCDS43035.1	22																																																																																			-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.642	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNB2	protein_coding	OTTHUMT00000316874.3	G	NM_012401	-		50719043	-1	no_errors	ENST00000359337	ensembl	human	known	74_37	silent	SNP	0.146	A
SPATA31D1	389763	genome.wustl.edu	37	9	84606023	84606023	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:84606023C>T	ENST00000344803.2	+	4	685	c.638C>T	c.(637-639)tCa>tTa	p.S213L		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	213	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GACTTATTTTCACCCTCACCA	0.552																																																	0								ENSG00000214929						88.0	86.0	87.0					9																	84606023		1839	4085	5924	SPATA31D1	SO:0001583	missense	0			-	HGNC		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.638C>T	9.37:g.84606023C>T	ENSP00000341988:p.Ser213Leu	Somatic	0	133	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	52	24.64		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S213L	ENST00000344803.2	37	c.638	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	9.061	0.994598	0.19043	.	.	ENSG00000214929	ENST00000344803	T	0.08458	3.09	3.01	1.11	0.20524	.	0.702099	0.11785	N	0.529749	T	0.08358	0.0208	L	0.49350	1.555	0.09310	N	1	B	0.31459	0.324	B	0.31614	0.133	T	0.30327	-0.9982	10	0.66056	D	0.02	-1.7566	5.1519	0.15015	0.0:0.7147:0.0:0.2853	.	213	Q6ZQQ2	F75D1_HUMAN	L	213	ENSP00000341988:S213L	ENSP00000341988:S213L	S	+	2	0	FAM75D1	83795843	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.536000	0.23129	0.325000	0.23359	-0.145000	0.13849	TCA	-	NULL		0.552	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	protein_coding	OTTHUMT00000402325.1	C	NM_001001670	-		84606023	+1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	SNP	0.002	T
PHF21B	112885	genome.wustl.edu	37	22	45312481	45312481	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:45312481G>A	ENST00000313237.5	-	4	393	c.243C>T	c.(241-243)agC>agT	p.S81S	PHF21B_ENST00000403565.1_5'UTR|PHF21B_ENST00000447824.3_Silent_p.S69S|PHF21B_ENST00000404079.2_Silent_p.S69S|PHF21B_ENST00000396103.3_Silent_p.S81S	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	81							zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CAACGGGGAGGCTGTCTGGAA	0.657																																																	0								ENSG00000056487						37.0	42.0	40.0					22																	45312481		2203	4300	6503	PHF21B	SO:0001819	synonymous_variant	0			-	HGNC	AK091480	CCDS14061.1, CCDS56234.1, CCDS63504.1	22q13.31	2013-01-28			ENSG00000056487	ENSG00000056487		"""Zinc fingers, PHD-type"""	25161	protein-coding gene	gene with protein product			"""PHD finger protein 4"""	PHF4		12477932	Standard	NM_138415		Approved	BHC80L, FLJ34161	uc011aql.2	Q96EK2	OTTHUMG00000151199	ENST00000313237.5:c.243C>T	22.37:g.45312481G>A		Somatic	0	154	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	59	25.32	B0QYW3|B0QYW4|B3KRU4|B7Z4F8|Q5TFL2|Q6ICC0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.S81	ENST00000313237.5	37	c.243	CCDS14061.1	22																																																																																			-	NULL		0.657	PHF21B-001	KNOWN	basic|CCDS	protein_coding	PHF21B	protein_coding	OTTHUMT00000321731.2	G	NM_138415	-		45312481	-1	no_errors	ENST00000313237	ensembl	human	known	74_37	silent	SNP	1.000	A
VWA8	23078	genome.wustl.edu	37	13	42404773	42404773	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:42404773A>T	ENST00000379310.3	-	14	1660	c.1592T>A	c.(1591-1593)aTc>aAc	p.I531N	VWA8_ENST00000281496.6_Missense_Mutation_p.I531N	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	531						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										TCGATCATGGATTAACCTAAC	0.398																																																	0								ENSG00000102763						80.0	75.0	77.0					13																	42404773		2203	4300	6503	VWA8	SO:0001583	missense	0			-	HGNC	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.1592T>A	13.37:g.42404773A>T	ENSP00000368612:p.Ile531Asn	Somatic	0	28	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.I531N	ENST00000379310.3	37	c.1592	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622792	0.87460	.	.	ENSG00000102763	ENST00000251030;ENST00000379310;ENST00000281496	T;T	0.59083	0.29;0.29	5.91	5.91	0.95273	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.059957	0.64402	D	0.000003	T	0.74473	0.3721	M	0.66439	2.03	0.80722	D	1	D	0.64830	0.994	D	0.70227	0.968	T	0.77081	-0.2720	10	0.87932	D	0	.	16.3486	0.83191	1.0:0.0:0.0:0.0	.	531	A3KMH1	K0564_HUMAN	N	435;531;531	ENSP00000368612:I531N;ENSP00000281496:I531N	ENSP00000251030:I435N	I	-	2	0	KIAA0564	41302773	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	9.046000	0.93817	2.259000	0.74868	0.528000	0.53228	ATC	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.398	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	protein_coding	OTTHUMT00000354828.2	A	NM_015058	-		42404773	-1	no_errors	ENST00000379310	ensembl	human	known	74_37	missense	SNP	1.000	T
SOX17	64321	genome.wustl.edu	37	8	55372039	55372039	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:55372039G>A	ENST00000297316.4	+	2	933	c.729G>A	c.(727-729)ggG>ggA	p.G243G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	243					angiogenesis (GO:0001525)|canonical Wnt signaling pathway (GO:0060070)|cardiac cell fate determination (GO:0060913)|cardiogenic plate morphogenesis (GO:0003142)|cell migration involved in gastrulation (GO:0042074)|common bile duct development (GO:0061009)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cell differentiation (GO:0060956)|endocardium formation (GO:0060214)|endoderm formation (GO:0001706)|endodermal cell fate determination (GO:0007493)|endodermal digestive tract morphogenesis (GO:0061031)|gall bladder development (GO:0061010)|heart formation (GO:0060914)|heart looping (GO:0001947)|inner cell mass cellular morphogenesis (GO:0001828)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth (GO:0030308)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell differentiation (GO:0045597)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein destabilization (GO:0031648)|protein stabilization (GO:0050821)|regulation of cardiac cell fate specification (GO:2000043)|regulation of embryonic development (GO:0045995)|regulation of stem cell division (GO:2000035)|regulation of stem cell proliferation (GO:0072091)|regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification (GO:0060807)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|rostrocaudal neural tube patterning (GO:0021903)|signal transduction involved in regulation of gene expression (GO:0023019)|spermatogenesis (GO:0007283)|stem cell fate specification (GO:0048866)|vasculogenesis (GO:0001570)	nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGATGCCCGGGGACTGCCCGG	0.766																																																	0								ENSG00000164736						2.0	2.0	2.0					8																	55372039		1244	2846	4090	SOX17	SO:0001819	synonymous_variant	0			-	HGNC	AB073988	CCDS6159.1	8q11.23	2014-09-04			ENSG00000164736	ENSG00000164736		"""SRY (sex determining region Y)-boxes"""	18122	protein-coding gene	gene with protein product		610928				11786926	Standard	NM_022454		Approved		uc003xsb.4	Q9H6I2	OTTHUMG00000164377	ENST00000297316.4:c.729G>A	8.37:g.55372039G>A		Somatic	0	13	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sox_C_TAD,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.G243	ENST00000297316.4	37	c.729	CCDS6159.1	8																																																																																			-	pfam_Sox_C_TAD		0.766	SOX17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX17	protein_coding	OTTHUMT00000378526.2	G		-		55372039	+1	no_errors	ENST00000297316	ensembl	human	known	74_37	silent	SNP	0.958	A
IRF2	3660	genome.wustl.edu	37	4	185350106	185350137	+	Splice_Site	DEL	ACATACACCCACCCTGACCCACTCACCTTGTT	ACATACACCCACCCTGACCCACTCACCTTGTT	-	rs369499558		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	ACATACACCCACCCTGACCCACTCACCTTGTT	ACATACACCCACCCTGACCCACTCACCTTGTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:185350106_185350137delACATACACCCACCCTGACCCACTCACCTTGTT	ENST00000393593.3	-	2	289_295	c.82_88delAACAAGGTGAGTGGGTCAGGGTGGGTGTATGT	c.(82-90)aacaaggtg>tg	p.NKV28fs	IRF2_ENST00000512020.1_5'UTR|SNORD79_ENST00000516069.1_RNA	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	28					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCTCTCTCACACATACACCCACCCTGACCCACTCACCTTGTTAAGCCACTTG	0.53																																																	0								ENSG00000168310																																			IRF2	SO:0001630	splice_region_variant	0				HGNC		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.87+1AACAAGGTGAGTGGGTCAGGGTGGGTGTATGT>-	4.37:g.185350106_185350137delACATACACCCACCCTGACCCACTCACCTTGTT		Somatic	NA	NA	NA		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2,prints_Interferon_reg_fact_DNA-bd_dom	p.N28fs	ENST00000393593.3	37	c.113_82	CCDS3835.1	4																																																																																			-	pfam_Interferon_reg_fact_DNA-bd_dom,smart_Interferon_reg_fact_DNA-bd_dom,pirsf_Interferon_reg_fac-1/2		0.530	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2	protein_coding	OTTHUMT00000361393.1	ACATACACCCACCCTGACCCACTCACCTTGTT			Frame_Shift_Del	185350137	-1	no_errors	ENST00000393593	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.001:0.001:0.002:0.002:0.021:0.006:0.188:0.182:0.003:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.925:0.938:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000	-
IDUA	3425	genome.wustl.edu	37	4	981704	981704	+	Missense_Mutation	SNP	G	G	A	rs121965029		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:981704G>A	ENST00000247933.4	+	2	354	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	SLC26A1_ENST00000361661.2_3'UTR|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_3'UTR	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	89			R -> Q (in MPS1S; in Japanese 21% of alleles). {ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:8213840}.|R -> W (in MPS1S). {ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:7550242}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AAGCAGGTCCGGACCCACTGG	0.677																																																	0			GRCh37	CM950677	IDUA	M	rs121965029	ENSG00000127415						29.0	22.0	25.0					4																	981704		2188	4288	6476	IDUA	SO:0001583	missense	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.266G>A	4.37:g.981704G>A	ENSP00000247933:p.Arg89Gln	Somatic	0	29	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	B3KWK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.R89Q	ENST00000247933.4	37	c.266	CCDS3343.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.241322	0.95272	.	.	ENSG00000127415	ENST00000247933	D	0.99282	-5.68	3.51	3.51	0.40186	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.64402	D	0.000004	D	0.99306	0.9757	M	0.83953	2.67	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99849	1.1069	9	0.72032	D	0.01	.	12.5332	0.56128	0.0:0.0:1.0:0.0	.	89	P35475	IDUA_HUMAN	Q	89	ENSP00000247933:R89Q	ENSP00000247933:R89Q	R	+	2	0	IDUA	971704	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	9.530000	0.98051	1.509000	0.48786	0.462000	0.41574	CGG	-	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF		0.677	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	G	NM_000203	rs121965029		981704	+1	no_errors	ENST00000247933	ensembl	human	known	74_37	missense	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237863617	237863617	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:237863617G>A	ENST00000366574.2	+	65	9534	c.9217G>A	c.(9217-9219)Gaa>Aaa	p.E3073K	RYR2_ENST00000542537.1_Missense_Mutation_p.E3057K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.E3071K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3073					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)			GAAGACCATGGAAAACCTCAA	0.498																																																	0								ENSG00000198626						44.0	43.0	43.0					1																	237863617		1931	4126	6057	RYR2	SO:0001583	missense	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.9217G>A	1.37:g.237863617G>A	ENSP00000355533:p.Glu3073Lys	Somatic	0	76	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	Q15411|Q546N8|Q5T3P2	Missense_Mutation	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.E3071K	ENST00000366574.2	37	c.9211	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.109674	0.94292	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288;ENST00000540213	D;D;D	0.96830	-4.14;-4.11;-4.13	4.97	4.97	0.65823	.	0.000000	0.64402	U	0.000015	D	0.97052	0.9037	L	0.46741	1.465	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.96390	0.9288	10	0.33940	T	0.23	.	18.6031	0.91256	0.0:0.0:1.0:0.0	.	3073	Q92736	RYR2_HUMAN	K	3073;3071;3057;28;68	ENSP00000355533:E3073K;ENSP00000353174:E3071K;ENSP00000443798:E3057K	ENSP00000353174:E3071K	E	+	1	0	RYR2	235930240	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.963000	0.87922	2.449000	0.82847	0.557000	0.71058	GAA	-	NULL		0.498	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	protein_coding	OTTHUMT00000095402.2	G	NM_001035	-		237863617	+1	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	SNP	1.000	A
CYP1A2	1544	genome.wustl.edu	37	15	75045534	75045534	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:75045534G>A	ENST00000343932.4	+	6	1239	c.1176G>A	c.(1174-1176)agG>agA	p.R392R		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	392					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	GCACAACAAGGGACACAACGC	0.557																																																	0								ENSG00000140505						170.0	108.0	129.0					15																	75045534		2197	4296	6493	CYP1A2	SO:0001819	synonymous_variant	0			-	HGNC	AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.1176G>A	15.37:g.75045534G>A		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	Q16754|Q6NWU5|Q9BXX7|Q9UK49	Silent	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_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.R392	ENST00000343932.4	37	c.1176	CCDS32293.1	15																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.557	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP1A2	protein_coding	OTTHUMT00000421263.2	G	NM_000761	-		75045534	+1	no_errors	ENST00000343932	ensembl	human	known	74_37	silent	SNP	0.471	A
DNAH3	55567	genome.wustl.edu	37	16	20975047	20975047	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:20975047C>T	ENST00000261383.3	-	53	10158	c.10159G>A	c.(10159-10161)Gaa>Aaa	p.E3387K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3387					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.E3387*(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGTAATTTCCTTCTTCTGT	0.517																																																	2	Substitution - Nonsense(2)	lung(2)						ENSG00000158486						93.0	77.0	82.0					16																	20975047		2201	4300	6501	DNAH3	SO:0001583	missense	0			-	HGNC	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.10159G>A	16.37:g.20975047C>T	ENSP00000261383:p.Glu3387Lys	Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	16	42.86	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase	p.E3387K	ENST00000261383.3	37	c.10159	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.843812	0.00568	.	.	ENSG00000158486	ENST00000261383	T	0.64085	-0.08	5.78	-4.21	0.03812	.	1.799460	0.02692	N	0.110722	T	0.40347	0.1113	N	0.12611	0.24	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.34725	-0.9817	10	0.09590	T	0.72	.	10.8995	0.47043	0.0:0.4217:0.2803:0.298	.	3387	Q8TD57	DYH3_HUMAN	K	3387	ENSP00000261383:E3387K	ENSP00000261383:E3387K	E	-	1	0	DNAH3	20882548	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.147000	0.10234	-0.486000	0.06744	-0.302000	0.09304	GAA	-	NULL		0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	C	NM_017539	-		20975047	-1	no_errors	ENST00000261383	ensembl	human	known	74_37	missense	SNP	0.000	T
ZNF827	152485	genome.wustl.edu	37	4	146824106	146824106	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:146824106G>A	ENST00000508784.1	-	2	532	c.305C>T	c.(304-306)tCc>tTc	p.S102F	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Missense_Mutation_p.S102F			Q17R98	ZN827_HUMAN	zinc finger protein 827	102					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(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CACTCCCGGGGAAAGGTGATC	0.582																																																	0								ENSG00000151612						72.0	66.0	68.0					4																	146824106		2203	4300	6503	ZNF827	SO:0001583	missense	0			-	HGNC	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.305C>T	4.37:g.146824106G>A	ENSP00000421863:p.Ser102Phe	Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S102F	ENST00000508784.1	37	c.305		4	.	.	.	.	.	.	.	.	.	.	G	21.0	4.075654	0.76415	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	T;T	0.13089	2.62;2.66	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.29093	0.0723	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.83275	0.991;0.996	T	0.01715	-1.1289	10	0.87932	D	0	-17.3103	20.3437	0.98782	0.0:0.0:1.0:0.0	.	102;102	Q17R98;Q17R98-2	ZN827_HUMAN;.	F	102;102;101	ENSP00000421863:S102F;ENSP00000368761:S102F	ENSP00000281318:S101F	S	-	2	0	ZNF827	147043556	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	7.539000	0.82063	2.815000	0.96918	0.561000	0.74099	TCC	-	NULL		0.582	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZNF827	protein_coding	OTTHUMT00000364654.2	G	NM_178835	-		146824106	-1	no_errors	ENST00000508784	ensembl	human	known	74_37	missense	SNP	1.000	A
SNAI1	6615	genome.wustl.edu	37	20	48600634	48600634	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:48600634C>T	ENST00000244050.2	+	2	417	c.356C>T	c.(355-357)tCt>tTt	p.S119F		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	119	Ser-rich.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ACTTCAGTCTCTTCCTTGGAG	0.627																																																	0								ENSG00000124216						53.0	63.0	59.0					20																	48600634		2203	4300	6503	SNAI1	SO:0001583	missense	0			-	HGNC	AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.356C>T	20.37:g.48600634C>T	ENSP00000244050:p.Ser119Phe	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	21	44.74	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S119F	ENST00000244050.2	37	c.356	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325729	0.60743	.	.	ENSG00000124216	ENST00000244050	T	0.24350	1.86	4.62	2.54	0.30619	.	0.051646	0.85682	D	0.000000	T	0.16300	0.0392	N	0.24115	0.695	0.39101	D	0.961287	P	0.45902	0.868	P	0.46026	0.501	T	0.02132	-1.1208	10	0.37606	T	0.19	-21.0836	3.4161	0.07376	0.1367:0.4238:0.3395:0.1001	.	119	O95863	SNAI1_HUMAN	F	119	ENSP00000244050:S119F	ENSP00000244050:S119F	S	+	2	0	SNAI1	48034041	0.014000	0.17966	0.809000	0.32408	0.959000	0.62525	0.963000	0.29293	2.281000	0.76405	0.557000	0.71058	TCT	-	NULL		0.627	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	protein_coding	OTTHUMT00000080350.1	C		-		48600634	+1	no_errors	ENST00000244050	ensembl	human	known	74_37	missense	SNP	0.898	T
FAM160A2	84067	genome.wustl.edu	37	11	6239821	6239821	+	Intron	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:6239821T>C	ENST00000449352.2	-	8	1699				FAM160A2_ENST00000265978.4_Missense_Mutation_p.S482G|FAM160A2_ENST00000524416.1_Intron			Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2						early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|protein transport (GO:0015031)	FHF complex (GO:0070695)				NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTCTCTGCTAGGCCCACCT	0.622																																																	0								ENSG00000051009						115.0	100.0	105.0					11																	6239821		2201	4296	6497	FAM160A2	SO:0001627	intron_variant	0			-	HGNC		CCDS7760.1, CCDS44530.1	11p15.4	2008-06-05	2008-06-05	2008-06-05	ENSG00000051009	ENSG00000051009			25378	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 56"""	C11orf56		11230166, 11214970	Standard	NM_001098794		Approved	FLJ22665, KIAA1759, DKFZP566M1046	uc001mck.4	Q8N612	OTTHUMG00000133379	ENST00000449352.2:c.1435+8A>G	11.37:g.6239821T>C		Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	8	27.27	Q9C0A4|Q9H0N3|Q9H624	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RetinoicA-induced_16-like	p.S482G	ENST00000449352.2	37	c.1444	CCDS44530.1	11	.	.	.	.	.	.	.	.	.	.	T	7.849	0.723505	0.15439	.	.	ENSG00000051009	ENST00000265978	T	0.08807	3.05	4.53	3.39	0.38822	.	0.714379	0.13811	N	0.361121	T	0.06371	0.0164	.	.	.	0.80722	D	1	B	0.15473	0.013	B	0.19391	0.025	T	0.28554	-1.0040	9	0.23302	T	0.38	-33.9884	8.3416	0.32247	0.1977:0.0:0.0:0.8022	.	482	Q8N612-2	.	G	482	ENSP00000265978:S482G	ENSP00000265978:S482G	S	-	1	0	FAM160A2	6196397	0.900000	0.30661	1.000000	0.80357	0.994000	0.84299	0.446000	0.21694	1.029000	0.39812	0.533000	0.62120	AGC	-	NULL		0.622	FAM160A2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM160A2	protein_coding	OTTHUMT00000383759.1	T	NM_032127	-		6239821	-1	no_errors	ENST00000265978	ensembl	human	known	74_37	missense	SNP	1.000	C
JAG1	182	genome.wustl.edu	37	20	10627606	10627606	+	Silent	SNP	C	C	T	rs140624746		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:10627606C>T	ENST00000254958.5	-	14	2381	c.1866G>A	c.(1864-1866)acG>acA	p.T622T	JAG1_ENST00000423891.2_Silent_p.T463T|JAG1_ENST00000488480.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	622	EGF-like 10. {ECO:0000255|PROSITE- ProRule:PRU00076}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)	p.T622T(2)		biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGTATGTTCCCGTGAAGCCTT	0.582									Alagille Syndrome																																								2	Substitution - coding silent(2)	lung(2)						ENSG00000101384	C		0,4406		0,0,2203	173.0	157.0	162.0		1866	-7.4	0.8	20	dbSNP_134	162	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JAG1	NM_000214.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		622/1219	10627606	1,13005	2203	4300	6503	JAG1	SO:0001819	synonymous_variant	0	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	-	HGNC	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.1866G>A	20.37:g.10627606C>T		Somatic	0	87	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	27	30.77	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.T622	ENST00000254958.5	37	c.1866	CCDS13112.1	20																																																																																			-	pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.582	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	protein_coding		C	NM_000214	rs140624746		10627606	-1	no_errors	ENST00000254958	ensembl	human	known	74_37	silent	SNP	0.328	T
NUMBL	9253	genome.wustl.edu	37	19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	TGCTGT	TGCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501																0								ENSG00000105245																																			NUMBL	SO:0001651	inframe_deletion	0				HGNC	AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del	Somatic	NA	NA	NA		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q7Z4J9	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			-	pirsf_Numb/numb-like		0.660	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756			41173898	-1	no_errors	ENST00000252891	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:0.998	-
MRTO4	51154	genome.wustl.edu	37	1	19584313	19584313	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:19584313C>T	ENST00000330263.4	+	6	638					NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)						ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACCACTTCTCTTTTCCCT	0.587																																					GBM(192;2418 3032 7540 48714)												0								ENSG00000053372						61.0	60.0	60.0					1																	19584313		2203	4300	6503	MRTO4	SO:0001627	intron_variant	0			-	HGNC	AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.342-14C>T	1.37:g.19584313C>T		Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	38	36.67	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000330263.4	37	NULL	CCDS191.1	1																																																																																			-	-		0.587	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRTO4	protein_coding	OTTHUMT00000007075.2	C	NM_016183	-		19584313	+1	no_errors	ENST00000479559	ensembl	human	known	74_37	rna	SNP	0.000	T
CLVS1	157807	genome.wustl.edu	37	8	62212438	62212438	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:62212438G>A	ENST00000519846.1	+	3	524	c.52G>A	c.(52-54)Gga>Aga	p.G18R	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Missense_Mutation_p.G18R|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	18					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CACTTGGAACGGAGATTTGGC	0.443																																																	0								ENSG00000177182						60.0	59.0	59.0					8																	62212438		2203	4300	6503	CLVS1	SO:0001583	missense	0			-	HGNC	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.52G>A	8.37:g.62212438G>A	ENSP00000428402:p.Gly18Arg	Somatic	0	39	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	20	42.86	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.G18R	ENST00000519846.1	37	c.52	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	G	3.954	-0.011774	0.07727	.	.	ENSG00000177182	ENST00000522621;ENST00000519846;ENST00000325897	T;T	0.78924	-1.22;-1.22	5.79	3.95	0.45737	.	0.883265	0.10054	N	0.721920	T	0.71643	0.3364	L	0.36672	1.1	0.29131	N	0.879647	D;B;B	0.62365	0.991;0.0;0.022	P;B;B	0.51193	0.662;0.0;0.008	T	0.60372	-0.7276	10	0.15952	T	0.53	0.9934	5.1782	0.15146	0.1469:0.1959:0.6572:0.0	.	18;18;18	E5RK22;Q8IUQ0;Q8IUQ0-2	.;CLVS1_HUMAN;.	R	18	ENSP00000428402:G18R;ENSP00000325506:G18R	ENSP00000325506:G18R	G	+	1	0	CLVS1	62374992	1.000000	0.71417	0.972000	0.41901	0.829000	0.46940	2.377000	0.44300	1.411000	0.46957	0.655000	0.94253	GGA	-	NULL		0.443	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	protein_coding	OTTHUMT00000378323.1	G	NM_173519	-		62212438	+1	no_errors	ENST00000325897	ensembl	human	known	74_37	missense	SNP	1.000	A
KIAA1324L	222223	genome.wustl.edu	37	7	86509846	86509846	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:86509846C>T	ENST00000450689.2	-	22	3216	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K	KIAA1324L_ENST00000297222.6_Splice_Site_p.E771K|KIAA1324L_ENST00000444627.1_Splice_Site_p.E940K|KIAA1324L_ENST00000416314.1_Splice_Site_p.E844K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	1011						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTTCTTTTTCCTAAGAAAAA	0.333																																																	0								ENSG00000164659						80.0	79.0	79.0					7																	86509846		2202	4299	6501	KIAA1324L	SO:0001630	splice_region_variant	0			-	HGNC	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.3031-1G>A	7.37:g.86509846C>T		Somatic	0	27	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.E1011K	ENST00000450689.2	37	c.3031	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501404	0.44455	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.17691	2.52;2.26;2.26;2.27	5.75	5.75	0.90469	.	0.220985	0.47093	N	0.000243	T	0.14700	0.0355	L	0.29908	0.895	0.54753	D	0.999989	B;B;B	0.18310	0.027;0.019;0.019	B;B;B	0.18263	0.021;0.007;0.007	T	0.10917	-1.0609	10	0.12103	T	0.63	.	18.9424	0.92610	0.0:1.0:0.0:0.0	.	1011;771;844	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	K	1011;771;940;844	ENSP00000413445:E1011K;ENSP00000297222:E771K;ENSP00000397377:E940K;ENSP00000402390:E844K	ENSP00000297222:E771K	E	-	1	0	KIAA1324L	86347782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.284000	0.65627	2.728000	0.93425	0.650000	0.86243	GAA	-	NULL		0.333	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	protein_coding	OTTHUMT00000333372.3	C	NM_152748	-	Missense_Mutation	86509846	-1	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	SNP	1.000	T
CHRNA1	1134	genome.wustl.edu	37	2	175618352	175618352	+	Silent	SNP	C	C	T	rs375856493		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:175618352C>T	ENST00000261007.5	-	7	798	c.732G>A	c.(730-732)ctG>ctA	p.L244L	CHRNA1_ENST00000409542.1_Silent_p.L137L|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Silent_p.L219L|CHRNA1_ENST00000409323.1_Silent_p.L219L|CHRNA1_ENST00000348749.5_Silent_p.L219L	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	244					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	AGGTGATGTCCAGGTAGGGGG	0.582																																																	0								ENSG00000138435						169.0	158.0	162.0					2																	175618352		2203	4300	6503	CHRNA1	SO:0001819	synonymous_variant	0			-	HGNC	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.732G>A	2.37:g.175618352C>T		Somatic	0	88	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	B4DRV6|D3DPE8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel	p.L244	ENST00000261007.5	37	c.732	CCDS33331.1	2																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.582	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	CHRNA1	protein_coding	OTTHUMT00000334116.1	C		-		175618352	-1	no_errors	ENST00000261007	ensembl	human	known	74_37	silent	SNP	1.000	T
KIAA1324L	222223	genome.wustl.edu	37	7	86526931	86526931	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:86526931G>A	ENST00000450689.2	-	19	2761	c.2576C>T	c.(2575-2577)aCc>aTc	p.T859I	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.T619I|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.T788I|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.T692I	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	859						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCCATCACAGGTACCTGCTGG	0.453																																																	0								ENSG00000164659						88.0	76.0	80.0					7																	86526931		2203	4300	6503	KIAA1324L	SO:0001583	missense	0			-	HGNC	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.2576C>T	7.37:g.86526931G>A	ENSP00000413445:p.Thr859Ile	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	13	40.91	A4D1C9|B4DJV3|Q17RI6|Q96DP2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom	p.T859I	ENST00000450689.2	37	c.2576	CCDS47632.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732229	0.89482	.	.	ENSG00000164659	ENST00000450689;ENST00000297222;ENST00000444627;ENST00000416314	T;T;T;T	0.04194	3.68;3.68;3.68;3.68	5.59	5.59	0.84812	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.00212	-1.1914	10	0.87932	D	0	.	18.5874	0.91196	0.0:0.0:1.0:0.0	.	859;619;692	A8MWY0;A8MWY0-2;B4DJV3	K132L_HUMAN;.;.	I	859;619;788;692	ENSP00000413445:T859I;ENSP00000297222:T619I;ENSP00000397377:T788I;ENSP00000402390:T692I	ENSP00000297222:T619I	T	-	2	0	KIAA1324L	86364867	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	9.869000	0.99810	2.642000	0.89623	0.650000	0.86243	ACC	-	superfamily_Man6P_isomerase_rcpt-bd_dom		0.453	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1324L	protein_coding	OTTHUMT00000333372.3	G	NM_152748	-		86526931	-1	no_errors	ENST00000450689	ensembl	human	known	74_37	missense	SNP	1.000	A
OR11L1	391189	genome.wustl.edu	37	1	248004963	248004963	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:248004963G>A	ENST00000355784.2	-	1	291	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	79						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TAGGAGAAGGGGCACAGTGGT	0.592																																																	0								ENSG00000197591						74.0	63.0	67.0					1																	248004963		2203	4300	6503	OR11L1	SO:0001583	missense	0			-	HGNC	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.236C>T	1.37:g.248004963G>A	ENSP00000348033:p.Pro79Leu	Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.P79L	ENST00000355784.2	37	c.236	CCDS31098.1	1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027607	0.75390	.	.	ENSG00000197591	ENST00000355784	T	0.01854	4.6	4.2	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36268	U	0.002685	T	0.17492	0.0420	H	0.94503	3.545	0.53005	D	0.999962	D	0.89917	1.0	D	0.97110	1.0	T	0.05402	-1.0887	10	0.87932	D	0	.	12.2744	0.54726	0.0851:0.0:0.9149:0.0	.	79	Q8NGX0	O11L1_HUMAN	L	79	ENSP00000348033:P79L	ENSP00000348033:P79L	P	-	2	0	OR11L1	246071586	1.000000	0.71417	0.933000	0.37362	0.951000	0.60555	5.544000	0.67231	1.110000	0.41699	0.543000	0.68304	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.592	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR11L1	protein_coding	OTTHUMT00000096850.1	G	NM_001001959	-		248004963	-1	no_errors	ENST00000355784	ensembl	human	known	74_37	missense	SNP	1.000	A
MIR380	494329	genome.wustl.edu	37	14	101489702	101489702	+	RNA	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:101489702A>C	ENST00000362112.2	-	0	111				MIR379_ENST00000362218.3_RNA|MIR1197_ENST00000408818.1_RNA|MIR323A_ENST00000362199.1_RNA|MIR758_ENST00000390227.1_RNA|MIR299_ENST00000385016.2_RNA|MIR411_ENST00000362239.2_RNA	NR_029872.1				microRNA 380																		CGTACGCTTTATCTGTGACGT	0.527																																																	0								ENSG00000199109						134.0	118.0	123.0					14																	101489702		1568	3582	5150	MIR411			0			-	HGNC			14q32.31	2013-02-12		2008-12-18		ENSG00000198982		"""ncRNAs / Micro RNAs"""	31873	non-coding RNA	RNA, micro		613654		MIRN380			Standard	NR_029872		Approved	hsa-mir-380	uc010awb.1				14.37:g.101489702A>C		Somatic	0	83	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	33	32.65		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000362112.2	37	NULL		14																																																																																			-	-		0.527	MIR380-201	KNOWN	basic	miRNA	MIR411	miRNA		A	NR_029872	-		101489702	+1	no_errors	ENST00000362239	ensembl	human	known	74_37	rna	SNP	1.000	C
OR2L2	26246	genome.wustl.edu	37	1	248202181	248202181	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:248202181C>T	ENST00000366479.2	+	1	708	c.612C>T	c.(610-612)atC>atT	p.I204I	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	204						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCAGCACCATCTTTCTTGTGC	0.483																																																	0								ENSG00000203663						313.0	270.0	285.0					1																	248202181		2203	4300	6503	OR2L2	SO:0001819	synonymous_variant	0			-	HGNC	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.612C>T	1.37:g.248202181C>T		Somatic	0	143	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	53	29.33	Q2M3T5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I204	ENST00000366479.2	37	c.612	CCDS31103.1	1																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L2	protein_coding	OTTHUMT00000096871.1	C	NM_001004686	-		248202181	+1	no_errors	ENST00000366479	ensembl	human	known	74_37	silent	SNP	0.000	T
TAF1	6872	genome.wustl.edu	37	X	70587930	70587930	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:70587930G>T	ENST00000373790.4	+	3	373	c.322G>T	c.(322-324)Gtg>Ttg	p.V108L	TAF1_ENST00000276072.3_Missense_Mutation_p.V108L|TAF1_ENST00000449580.1_Missense_Mutation_p.V108L|TAF1_ENST00000423759.1_Missense_Mutation_p.V108L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	108	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGAAGATGCTGTGGACTATTC	0.473																																																	0								ENSG00000147133						193.0	166.0	175.0					X																	70587930		2203	4300	6503	TAF1	SO:0001583	missense	0			-	HGNC		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.322G>T	X.37:g.70587930G>T	ENSP00000362895:p.Val108Leu	Somatic	0	62	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.V108L	ENST00000373790.4	37	c.322	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	16.32	3.089865	0.55968	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.11495	2.77;2.85;2.86;2.81	5.2	4.32	0.51571	.	0.000000	0.85682	D	0.000000	T	0.13286	0.0322	M	0.64567	1.98	0.48288	D	0.999625	B;B	0.31318	0.014;0.319	B;B	0.34301	0.01;0.179	T	0.02417	-1.1162	10	0.46703	T	0.11	.	9.1425	0.36912	0.1671:0.0:0.8329:0.0	.	108;108	P21675;P21675-2	TAF1_HUMAN;.	L	108	ENSP00000362895:V108L;ENSP00000389000:V108L;ENSP00000406549:V108L;ENSP00000276072:V108L	ENSP00000276072:V108L	V	+	1	0	TAF1	70504655	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.481000	0.66826	2.293000	0.77203	0.589000	0.80489	GTG	-	pirsf_TAF1_animal		0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	protein_coding	OTTHUMT00000058995.2	G	NM_004606	-		70587930	+1	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	SNP	1.000	T
KLB	152831	genome.wustl.edu	37	4	39448830	39448830	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:39448830T>C	ENST00000257408.4	+	4	2581	c.2484T>C	c.(2482-2484)acT>acC	p.T828T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	828	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|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)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						ACTTCACCACTAGGTTCGTGA	0.667																																																	0								ENSG00000134962						48.0	43.0	44.0					4																	39448830		2203	4300	6503	KLB	SO:0001819	synonymous_variant	0			-	HGNC	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2484T>C	4.37:g.39448830T>C		Somatic	0	108	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	41	29.31	Q2M3K8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.T828	ENST00000257408.4	37	c.2484	CCDS3451.1	4																																																																																			-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.667	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	protein_coding	OTTHUMT00000250429.1	T	NM_175737	-		39448830	+1	no_errors	ENST00000257408	ensembl	human	known	74_37	silent	SNP	0.434	C
PDCD11	22984	genome.wustl.edu	37	10	105203055	105203055	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:105203055C>T	ENST00000369797.3	+	33	5183	c.5089C>T	c.(5089-5091)Ctg>Ttg	p.L1697L		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1697					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CTTTCTCCACCTGGCTGACAT	0.552																																																	0								ENSG00000148843						63.0	60.0	61.0					10																	105203055		2203	4300	6503	PDCD11	SO:0001819	synonymous_variant	0			-	HGNC	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5089C>T	10.37:g.105203055C>T		Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.L1697	ENST00000369797.3	37	c.5089	CCDS31276.1	10																																																																																			-	smart_HAT,pfscan_TPR-contain_dom		0.552	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	protein_coding	OTTHUMT00000050151.1	C		-		105203055	+1	no_errors	ENST00000369797	ensembl	human	known	74_37	silent	SNP	0.997	T
GCC2	9648	genome.wustl.edu	37	2	109100731	109100731	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:109100731C>T	ENST00000309863.6	+	13	4291	c.3577C>T	c.(3577-3579)Caa>Taa	p.Q1193*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1193					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AATAAAAATTCAAAAACAGAA	0.269																																																	0								ENSG00000135968						36.0	37.0	37.0					2																	109100731		2196	4293	6489	GCC2	SO:0001587	stop_gained	0			-	HGNC	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3577C>T	2.37:g.109100731C>T	ENSP00000307939:p.Gln1193*	Somatic	0	35	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	20	23.08	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP	p.Q1193*	ENST00000309863.6	37	c.3577	CCDS33268.1	2	.	.	.	.	.	.	.	.	.	.	C	41	8.571892	0.98868	.	.	ENSG00000135968	ENST00000309863	.	.	.	5.98	2.78	0.32641	.	0.579120	0.18019	N	0.154282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	9.7829	0.40660	0.1183:0.7431:0.0:0.1386	.	.	.	.	X	1193	.	ENSP00000307939:Q1193X	Q	+	1	0	GCC2	108467163	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	3.093000	0.50217	0.849000	0.35215	-0.218000	0.12543	CAA	-	NULL		0.269	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC2	protein_coding	OTTHUMT00000358516.3	C	NM_014635	-		109100731	+1	no_errors	ENST00000309863	ensembl	human	known	74_37	nonsense	SNP	0.992	T
RNF169	254225	genome.wustl.edu	37	11	74521252	74521252	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:74521252G>A	ENST00000299563.4	+	3	613	c.600G>A	c.(598-600)gaG>gaA	p.E200E		NM_001098638.1	NP_001092108.1	Q8NCN4	RN169_HUMAN	ring finger protein 169	200					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of double-strand break repair (GO:2000780)|protein ubiquitination (GO:0016567)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|site of double-strand break (GO:0035861)	K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						AGTTACAAGAGGAAAAACCCT	0.323																																																	0								ENSG00000166439						83.0	80.0	81.0					11																	74521252		1803	4070	5873	RNF169	SO:0001819	synonymous_variant	0			-	HGNC	AB082522	CCDS41691.1	11q13.4	2008-02-05			ENSG00000166439	ENSG00000166439		"""RING-type (C3HC4) zinc fingers"""	26961	protein-coding gene	gene with protein product						12056414	Standard	NM_001098638		Approved	KIAA1991	uc001ovl.4	Q8NCN4	OTTHUMG00000165516	ENST00000299563.4:c.600G>A	11.37:g.74521252G>A		Somatic	0	29	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	22	35.29	Q6N015	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_RING,pfscan_Znf_RING	p.E200	ENST00000299563.4	37	c.600	CCDS41691.1	11																																																																																			-	NULL		0.323	RNF169-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF169	protein_coding	OTTHUMT00000384741.1	G	XM_495886	-		74521252	+1	no_errors	ENST00000299563	ensembl	human	known	74_37	silent	SNP	1.000	A
GSTM5	2949	genome.wustl.edu	37	1	110255276	110255276	+	Missense_Mutation	SNP	G	G	A	rs200081331		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:110255276G>A	ENST00000256593.3	+	2	131	c.73G>A	c.(73-75)Gac>Aac	p.D25N	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.D25N	NM_000851.3	NP_000842.2	P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	25	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GGAATACACAGACTCAAGCTA	0.607																																																	0								ENSG00000134201						83.0	88.0	86.0					1																	110255276		2203	4300	6503	GSTM5	SO:0001583	missense	0			-	HGNC	L02321	CCDS811.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134201	ENSG00000134201	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4637	protein-coding gene	gene with protein product		138385	"""glutathione S-transferase M5"""			8473333	Standard	NM_000851		Approved		uc001dyn.3	P46439	OTTHUMG00000011644	ENST00000256593.3:c.73G>A	1.37:g.110255276G>A	ENSP00000256593:p.Asp25Asn	Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	40	27.27	A8K0V8|Q6PD78	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.D25N	ENST00000256593.3	37	c.73	CCDS811.1	1	.	.	.	.	.	.	.	.	.	.	G	16.86	3.238864	0.58995	.	.	ENSG00000134201	ENST00000256593;ENST00000369812	T;T	0.06218	3.33;3.33	4.74	4.74	0.60224	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.237722	0.33199	N	0.005179	T	0.02970	0.0088	L	0.42581	1.335	0.29783	N	0.833803	B	0.06786	0.001	B	0.08055	0.003	T	0.22941	-1.0202	10	0.41790	T	0.15	.	14.9914	0.71390	0.0:0.0:1.0:0.0	.	25	P46439	GSTM5_HUMAN	N	25	ENSP00000256593:D25N;ENSP00000358827:D25N	ENSP00000256593:D25N	D	+	1	0	GSTM5	110056799	0.966000	0.33281	0.320000	0.25306	0.740000	0.42216	5.742000	0.68646	2.324000	0.78689	0.505000	0.49811	GAC	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.607	GSTM5-001	KNOWN	basic|CCDS	protein_coding	GSTM5	protein_coding	OTTHUMT00000032200.1	G	NM_000851	-		110255276	+1	no_errors	ENST00000369812	ensembl	human	known	74_37	missense	SNP	0.955	A
NOTUM	147111	genome.wustl.edu	37	17	79911073	79911073	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:79911073G>A	ENST00000409678.3	-	11	1638	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	419						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TGGCTGTCATGGAGGCTCCTG	0.677																																																	0								ENSG00000185269						21.0	22.0	22.0					17																	79911073		2203	4297	6500	NOTUM	SO:0001583	missense	0			-	HGNC	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1255C>T	17.37:g.79911073G>A	ENSP00000387310:p.His419Tyr	Somatic	0	140	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	51	16.39	Q8N410|Q8NI82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NOTUM	p.H419Y	ENST00000409678.3	37	c.1255	CCDS32771.2	17	.	.	.	.	.	.	.	.	.	.	G	17.61	3.431743	0.62844	.	.	ENSG00000185269	ENST00000409678	.	.	.	4.84	4.84	0.62591	.	0.285757	0.41001	D	0.000979	T	0.55800	0.1943	L	0.47716	1.5	0.54753	D	0.999989	P	0.51653	0.947	P	0.47827	0.558	T	0.52823	-0.8524	9	0.08837	T	0.75	.	17.9124	0.88938	0.0:0.0:1.0:0.0	.	419	Q6P988	NOTUM_HUMAN	Y	419	.	ENSP00000387310:H419Y	H	-	1	0	NOTUM	77504363	1.000000	0.71417	0.939000	0.37840	0.898000	0.52572	6.176000	0.71955	2.211000	0.71520	0.542000	0.68232	CAT	-	pfam_NOTUM		0.677	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTUM	protein_coding	OTTHUMT00000335123.2	G	NM_178493	-		79911073	-1	no_errors	ENST00000409678	ensembl	human	known	74_37	missense	SNP	0.998	A
BLOC1S1	2647	genome.wustl.edu	37	12	56109896	56109896	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:56109896C>T	ENST00000548925.1	+	1	76	c.61C>T	c.(61-63)Ccc>Tcc	p.P21S	BLOC1S1_ENST00000549147.1_Missense_Mutation_p.P21S|BLOC1S1_ENST00000551926.1_5'Flank|RP11-644F5.10_ENST00000550412.1_Missense_Mutation_p.P21S|BLOC1S1_ENST00000547076.1_5'Flank|RP11-644F5.10_ENST00000549424.1_5'Flank|BLOC1S1_ENST00000257899.2_5'UTR|BLOC1S1_ENST00000548556.1_5'Flank			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	21					aerobic respiration (GO:0009060)|anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|peptidyl-lysine acetylation (GO:0018394)|platelet dense granule organization (GO:0060155)|post-Golgi vesicle-mediated transport (GO:0006892)	BLOC-1 complex (GO:0031083)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)				breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						GCCCGGCGTACCCAGCCCCCA	0.652																																					Colon(112;1254 2715 13015)												0								ENSG00000135441						31.0	31.0	31.0					12																	56109896		2199	4298	6497	BLOC1S1	SO:0001583	missense	0			-	HGNC	S82447	CCDS8889.1, CCDS8889.2	12q13-q14	2012-08-01	2008-08-11	2004-05-26		ENSG00000135441		"""Biogenesis of lysosomal organelles complex-1 subunits"""	4200	protein-coding gene	gene with protein product	"""GCN5 (general control of amino-acid synthesis, yeast, homolog)-like 1"", ""BLOC-1 Subunit 1"", ""Biogenesis of Lysosome-related Organelles complex-1 Subunit 1"""	601444	"""GCN5 general control of amino-acid synthesis 5-like 1 (yeast)"""	GCN5L1		8646881, 15102850	Standard	NM_001487		Approved	BLOS1	uc001shi.4	P78537		ENST00000548925.1:c.61C>T	12.37:g.56109896C>T	ENSP00000447537:p.Pro21Ser	Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	A1L4Q9|Q6NZ45	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GCN5L1	p.P21S	ENST00000548925.1	37	c.61	CCDS8889.2	12	.	.	.	.	.	.	.	.	.	.	C	14.46	2.542464	0.45280	.	.	ENSG00000258311;ENSG00000135441;ENSG00000135441	ENST00000550412;ENST00000548925;ENST00000549147	T;T	0.43294	0.95;0.95	4.53	0.361	0.16107	.	.	.	.	.	T	0.19967	0.0480	N	0.08118	0	0.20926	N	0.999828	B;B	0.16396	0.017;0.005	B;B	0.17433	0.018;0.003	T	0.18713	-1.0328	9	0.39692	T	0.17	.	4.8604	0.13581	0.0:0.4665:0.3389:0.1946	.	21;21	F8VP73;F8W036	.;.	S	21	ENSP00000447650:P21S;ENSP00000450328:P21S	ENSP00000447537:P21S	P	+	1	0	RP11-644F5.10;BLOC1S1	54396163	.	.	0.000000	0.03702	0.022000	0.10575	.	.	-0.031000	0.13781	-0.258000	0.10820	CCC	-	NULL		0.652	BLOC1S1-001	KNOWN	downstream_ATG|basic|CCDS	protein_coding	BLOC1S1	protein_coding	OTTHUMT00000406681.1	C	NM_001487	-		56109896	+1	no_errors	ENST00000548925	ensembl	human	known	74_37	missense	SNP	0.001	T
FYCO1	79443	genome.wustl.edu	37	3	46008746	46008746	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:46008746G>T	ENST00000296137.2	-	8	2285	c.2080C>A	c.(2080-2082)Cag>Aag	p.Q694K	FYCO1_ENST00000535325.1_Missense_Mutation_p.Q694K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	694					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCTGCCATCTGGGCTTTCATG	0.637																																																	0								ENSG00000163820						98.0	103.0	101.0					3																	46008746		2203	4300	6503	FYCO1	SO:0001583	missense	0			-	HGNC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.2080C>A	3.37:g.46008746G>T	ENSP00000296137:p.Gln694Lys	Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.Q694K	ENST00000296137.2	37	c.2080	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	G	9.373	1.071026	0.20147	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.24723	1.86;1.84	5.77	2.97	0.34412	.	0.437541	0.27008	N	0.021391	T	0.25121	0.0610	L	0.53249	1.67	0.26011	N	0.981983	B;B	0.32939	0.329;0.391	B;B	0.26693	0.032;0.072	T	0.03945	-1.0990	10	0.48119	T	0.1	-0.3973	16.0108	0.80402	0.0:0.0:0.6547:0.3453	.	694;694	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	694	ENSP00000296137:Q694K;ENSP00000441178:Q694K	ENSP00000296137:Q694K	Q	-	1	0	FYCO1	45983750	1.000000	0.71417	0.780000	0.31762	0.907000	0.53573	3.073000	0.50057	0.078000	0.16900	-0.808000	0.03180	CAG	-	superfamily_Prefoldin		0.637	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	protein_coding	OTTHUMT00000257320.2	G	NM_024513	-		46008746	-1	no_errors	ENST00000535325	ensembl	human	known	74_37	missense	SNP	0.997	T
ZNF271	10778	genome.wustl.edu	37	18	32887828	32887828	+	RNA	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:32887828G>A	ENST00000399070.3	+	0	2222					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						CACTGTACCAGAAAAAAATCT	0.363																																																	0								ENSG00000257267						55.0	53.0	53.0					18																	32887828		2203	4300	6503	ZNF271			0			-	HGNC	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887828G>A		Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	20	25.93	B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			-	-		0.363	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	pseudogene	OTTHUMT00000255767.2	G	NR_024565	-		32887828	+1	no_errors	ENST00000399070	ensembl	human	known	74_37	rna	SNP	0.577	A
TET3	200424	genome.wustl.edu	37	2	74274129	74274129	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:74274129C>T	ENST00000409262.3	+	1	680	c.680C>T	c.(679-681)gCc>gTc	p.A227V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	227					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCATTGAGGCCCTCACACAG	0.607																																																	0								ENSG00000187605						45.0	49.0	48.0					2																	74274129		2095	4215	6310	TET3	SO:0001583	missense	0			-	HGNC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.680C>T	2.37:g.74274129C>T	ENSP00000386869:p.Ala227Val	Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	17.07	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A227V	ENST00000409262.3	37	c.680	CCDS46339.1	2	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380143	0.82682	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.55413	0.52;1.58	5.84	5.84	0.93424	.	.	.	.	.	T	0.61540	0.2355	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.64740	-0.6336	9	0.62326	D	0.03	.	18.8993	0.92435	0.0:1.0:0.0:0.0	.	227	O43151	TET3_HUMAN	V	269;227;227	ENSP00000307803:A269V;ENSP00000386869:A227V	ENSP00000233310:A227V	A	+	2	0	TET3	74127637	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.188000	0.77739	2.768000	0.95171	0.561000	0.74099	GCC	-	NULL		0.607	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	protein_coding	OTTHUMT00000328141.4	C		-		74274129	+1	no_errors	ENST00000409262	ensembl	human	known	74_37	missense	SNP	1.000	T
CADPS	8618	genome.wustl.edu	37	3	62570972	62570972	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:62570972G>A	ENST00000383710.4	-	8	1814	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	CADPS_ENST00000283269.9_Missense_Mutation_p.P489S|CADPS_ENST00000357948.3_Missense_Mutation_p.P489S	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	489					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.P489T(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACTGTTTGGGGCTGTTCGGG	0.418																																																	2	Substitution - Missense(2)	lung(2)						ENSG00000163618						169.0	169.0	169.0					3																	62570972		2203	4300	6503	CADPS	SO:0001583	missense	0			-	HGNC	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.1465C>T	3.37:g.62570972G>A	ENSP00000373215:p.Pro489Ser	Somatic	1	110	0.90		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	55	33	62.50	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.P489S	ENST00000383710.4	37	c.1465	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	G	7.967	0.748183	0.15710	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269	T;T;T	0.70869	-0.52;-0.52;-0.52	5.84	5.84	0.93424	C2 calcium-dependent membrane targeting (1);	0.057615	0.64402	D	0.000001	T	0.69655	0.3135	N	0.11106	0.095	0.80722	D	1	B;P;D	0.89917	0.028;0.793;1.0	B;B;D	0.83275	0.044;0.396;0.996	T	0.62548	-0.6831	10	0.06236	T	0.91	.	20.1434	0.98067	0.0:0.0:1.0:0.0	.	489;489;489	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	S	489	ENSP00000373215:P489S;ENSP00000350632:P489S;ENSP00000283269:P489S	ENSP00000283269:P489S	P	-	1	0	CADPS	62546012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.863000	0.87023	2.769000	0.95229	0.563000	0.77884	CCC	-	superfamily_C2_dom		0.418	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	protein_coding	OTTHUMT00000351951.5	G	NM_003716, NM_183393, NM_183394	-		62570972	-1	no_errors	ENST00000383710	ensembl	human	known	74_37	missense	SNP	1.000	A
ADCY8	114	genome.wustl.edu	37	8	131833655	131833655	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:131833655C>T	ENST00000286355.5	-	13	4779	c.2687G>A	c.(2686-2688)gGg>gAg	p.G896E	ADCY8_ENST00000377928.3_Missense_Mutation_p.G765E	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	896					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTCCTTGGTCCCCAGGAAATC	0.458										HNSCC(32;0.087)																																							0								ENSG00000155897						86.0	70.0	75.0					8																	131833655		2203	4300	6503	ADCY8	SO:0001583	missense	0			-	HGNC	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2687G>A	8.37:g.131833655C>T	ENSP00000286355:p.Gly896Glu	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	25	25.71		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.G896E	ENST00000286355.5	37	c.2687	CCDS6363.1	8	.	.	.	.	.	.	.	.	.	.	C	15.77	2.931769	0.52866	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	T;T	0.78595	-1.16;-1.19	5.92	5.92	0.95590	.	0.049918	0.85682	D	0.000000	T	0.66066	0.2752	L	0.34521	1.04	0.49213	D	0.99976	B;B	0.31837	0.038;0.342	B;B	0.27076	0.076;0.024	T	0.64394	-0.6418	10	0.02654	T	1	.	19.3225	0.94248	0.0:1.0:0.0:0.0	.	765;896	E7EVL1;P40145	.;ADCY8_HUMAN	E	896;765	ENSP00000286355:G896E;ENSP00000367161:G765E	ENSP00000286355:G896E	G	-	2	0	ADCY8	131902837	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.364000	0.79526	2.822000	0.97130	0.650000	0.86243	GGG	-	NULL		0.458	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	protein_coding	OTTHUMT00000380080.1	C		-		131833655	-1	no_errors	ENST00000286355	ensembl	human	known	74_37	missense	SNP	1.000	T
FMO2	2327	genome.wustl.edu	37	1	171174662	171174662	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:171174662C>T	ENST00000209929.7	+	7	1230	c.1072C>T	c.(1072-1074)Ccc>Tcc	p.P358S	RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA|FMO2_ENST00000441535.1_Missense_Mutation_p.P358S			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	357					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATACATATTCCCCGCTCACCT	0.438																																																	0								ENSG00000094963						85.0	81.0	82.0					1																	171174662		2203	4300	6503	FMO2	SO:0001583	missense	0			-	HGNC	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.1072C>T	1.37:g.171174662C>T	ENSP00000209929:p.Pro358Ser	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q53XR0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5	p.P358S	ENST00000209929.7	37	c.1072	CCDS1293.1	1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889062	0.72524	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.66280	-0.2;-0.2	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	M	0.88906	2.99	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83794	0.0232	10	0.87932	D	0	-21.1244	18.9446	0.92616	0.0:1.0:0.0:0.0	.	358	Q99518	FMO2_HUMAN	S	358	ENSP00000209929:P358S;ENSP00000405905:P358S	ENSP00000209929:P358S	P	+	1	0	FMO2	169441286	1.000000	0.71417	0.992000	0.48379	0.172000	0.22775	7.807000	0.86032	2.768000	0.95171	0.655000	0.94253	CCC	-	pfam_Flavin_mOase-like		0.438	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO2	protein_coding	OTTHUMT00000086216.2	C	NM_001460	-		171174662	+1	no_errors	ENST00000209929	ensembl	human	known	74_37	missense	SNP	1.000	T
PDE4A	5141	genome.wustl.edu	37	19	10572584	10572584	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10572584C>T	ENST00000352831.6	+	13	1762	c.1652C>T	c.(1651-1653)aCc>aTc	p.T551I	PDE4A_ENST00000344979.3_Missense_Mutation_p.T312I|PDE4A_ENST00000380702.2_Missense_Mutation_p.T529I|PDE4A_ENST00000440014.2_Missense_Mutation_p.T490I|PDE4A_ENST00000293683.5_Missense_Mutation_p.T525I|PDE4A_ENST00000592685.1_Missense_Mutation_p.T529I	NM_001111307.1	NP_001104777.1	P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	551	Catalytic.				cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Caffeine(DB00201)|Dipyridamole(DB00975)|Drotaverine(DB06751)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Oxtriphylline(DB01303)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theophylline(DB00277)|Tofisopam(DB08811)	AAGCACATGACCCTCCTGGCT	0.637																																																	0								ENSG00000065989						104.0	88.0	93.0					19																	10572584		2203	4300	6503	PDE4A	SO:0001583	missense	0			-	HGNC		CCDS12238.1, CCDS45961.1, CCDS45962.1, CCDS45963.1, CCDS58649.1	19p13.2	2010-06-24	2010-06-24			ENSG00000065989	3.1.4.17	"""Phosphodiesterases"""	8780	protein-coding gene	gene with protein product	"""phosphodiesterase E2 dunce homolog (Drosophila)"""	600126	"""phosphodiesterase 4A, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E2)"""	DPDE2		8009369	Standard	NM_006202		Approved		uc002moj.2	P27815		ENST00000352831.6:c.1652C>T	19.37:g.10572584C>T	ENSP00000270474:p.Thr551Ile	Somatic	0	154	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	67	26.09	O75522|O76092|Q16255|Q16691|Q5DM53|Q6PMT2|Q8IVA7|Q8WUQ3|Q9H3H2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.T551I	ENST00000352831.6	37	c.1652	CCDS45961.1	19	.	.	.	.	.	.	.	.	.	.	C	17.16	3.319659	0.60524	.	.	ENSG00000065989	ENST00000380702;ENST00000352831;ENST00000293683;ENST00000440014;ENST00000344979;ENST00000380686	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	3.73	2.61	0.31194	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.097875	0.64402	D	0.000002	T	0.70727	0.3257	L	0.39566	1.225	0.42695	D	0.993593	B;D;D;P;P	0.63880	0.384;0.98;0.993;0.751;0.885	B;P;P;B;P	0.58013	0.085;0.795;0.831;0.387;0.522	T	0.73350	-0.4010	10	0.87932	D	0	.	9.0302	0.36254	0.0:0.6221:0.3779:0.0	.	217;312;490;525;551	P27815-5;P27815-4;P27815-6;P27815-2;P27815	.;.;.;.;PDE4A_HUMAN	I	529;551;525;490;312;217	ENSP00000370078:T529I;ENSP00000270474:T551I;ENSP00000293683:T525I;ENSP00000394754:T490I;ENSP00000341007:T312I	ENSP00000293683:T525I	T	+	2	0	PDE4A	10433584	0.912000	0.30974	1.000000	0.80357	0.995000	0.86356	0.789000	0.26886	1.936000	0.56123	0.484000	0.47621	ACC	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.637	PDE4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE4A	protein_coding	OTTHUMT00000451244.1	C		-		10572584	+1	no_errors	ENST00000352831	ensembl	human	known	74_37	missense	SNP	1.000	T
PSD	5662	genome.wustl.edu	37	10	104171537	104171537	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:104171537C>T	ENST00000020673.5	-	8	2395	c.1869G>A	c.(1867-1869)caG>caA	p.Q623Q	PSD_ENST00000406432.1_Silent_p.Q623Q	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	623	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCTCTCGTTCCTGGGTCTCAC	0.592																																																	0								ENSG00000059915						62.0	46.0	51.0					10																	104171537		2203	4300	6503	PSD	SO:0001819	synonymous_variant	0			-	HGNC	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1869G>A	10.37:g.104171537C>T		Somatic	0	79	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	26	33.33	B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type	p.Q623	ENST00000020673.5	37	c.1869	CCDS31272.1	10																																																																																			-	pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom		0.592	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	protein_coding	OTTHUMT00000050041.2	C		-		104171537	-1	no_errors	ENST00000020673	ensembl	human	known	74_37	silent	SNP	1.000	T
MYH7	4625	genome.wustl.edu	37	14	23889067	23889067	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:23889067A>C	ENST00000355349.3	-	27	3875	c.3713T>G	c.(3712-3714)aTc>aGc	p.I1238S	MIR208B_ENST00000401172.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1238					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCCTTGATGATCTGCTCCAT	0.562																																																	0								ENSG00000092054						128.0	113.0	118.0					14																	23889067		2203	4299	6502	MYH7	SO:0001583	missense	0			-	HGNC	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3713T>G	14.37:g.23889067A>C	ENSP00000347507:p.Ile1238Ser	Somatic	0	86	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1238S	ENST00000355349.3	37	c.3713	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	A	17.67	3.447086	0.63178	.	.	ENSG00000092054	ENST00000355349	T	0.79352	-1.26	4.98	4.98	0.66077	Myosin tail (1);	.	.	.	.	T	0.79317	0.4425	L	0.53249	1.67	0.47994	D	0.999562	B	0.27166	0.17	B	0.39339	0.297	T	0.79943	-0.1590	9	0.87932	D	0	.	14.8374	0.70194	1.0:0.0:0.0:0.0	.	1238	P12883	MYH7_HUMAN	S	1238	ENSP00000347507:I1238S	ENSP00000347507:I1238S	I	-	2	0	MYH7	22958907	0.634000	0.27190	1.000000	0.80357	0.997000	0.91878	5.675000	0.68123	2.088000	0.63022	0.533000	0.62120	ATC	-	pfam_Myosin_tail		0.562	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	A	NM_000257	-		23889067	-1	no_errors	ENST00000355349	ensembl	human	known	74_37	missense	SNP	1.000	C
ANK2	287	genome.wustl.edu	37	4	114203899	114203899	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:114203899C>T	ENST00000357077.4	+	18	2003	c.1950C>T	c.(1948-1950)aaC>aaT	p.N650N	ANK2_ENST00000264366.6_Silent_p.N650N|ANK2_ENST00000394537.3_Silent_p.N650N|ANK2_ENST00000506722.1_Silent_p.N629N	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	650					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACTCCTGAACTATGGAGCAG	0.423																																																	0								ENSG00000145362						117.0	98.0	104.0					4																	114203899		2203	4300	6503	ANK2	SO:0001819	synonymous_variant	0			-	HGNC	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1950C>T	4.37:g.114203899C>T		Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	17	41.38	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.N650	ENST00000357077.4	37	c.1950	CCDS3702.1	4																																																																																			-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	C	NM_001148	-		114203899	+1	no_errors	ENST00000357077	ensembl	human	known	74_37	silent	SNP	1.000	T
ZNF528	84436	genome.wustl.edu	37	19	52919608	52919608	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:52919608C>T	ENST00000360465.3	+	7	1929	c.1503C>T	c.(1501-1503)gtC>gtT	p.V501V	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	501					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGCAAGGTCTTCAGTCGCA	0.393																																																	0								ENSG00000167555						51.0	49.0	50.0					19																	52919608		2203	4300	6503	ZNF528	SO:0001819	synonymous_variant	0			-	HGNC	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1503C>T	19.37:g.52919608C>T		Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B3KPN4|Q86T88|Q96JK0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V501	ENST00000360465.3	37	c.1503	CCDS33091.1	19																																																																																			-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF528	protein_coding	OTTHUMT00000344336.1	C	NM_032423	-		52919608	+1	no_errors	ENST00000360465	ensembl	human	known	74_37	silent	SNP	0.231	T
ZFR	51663	genome.wustl.edu	37	5	32379556	32379556	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:32379556C>T	ENST00000265069.8	-	17	2842				AC008949.1_ENST00000411029.1_RNA|ZFR_ENST00000510369.1_Intron	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein						multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTTCTTGATCCCCTGTGAACC	0.303																																																	0								ENSG00000222961																																			AC008949.1	SO:0001627	intron_variant	0			-	Clone_based_ensembl_gene	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2740-240G>A	5.37:g.32379556C>T		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	38	44.12	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000265069.8	37	NULL	CCDS34139.1	5																																																																																			-	-		0.303	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222961	protein_coding	OTTHUMT00000366586.1	C		-		32379556	-1	no_errors	ENST00000411029	ensembl	human	novel	74_37	rna	SNP	1.000	T
ZNF334	55713	genome.wustl.edu	37	20	45131081	45131081	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:45131081C>T	ENST00000347606.4	-	5	1079	c.897G>A	c.(895-897)agG>agA	p.R299R	ZNF334_ENST00000457685.2_Silent_p.R261R|ZNF334_ENST00000593880.1_Silent_p.R322R	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	299					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGAAGGTTTTCCTGCATTCAC	0.408																																																	0								ENSG00000198185						102.0	103.0	103.0					20																	45131081		2203	4300	6503	ZNF334	SO:0001819	synonymous_variant	0			-	HGNC	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.897G>A	20.37:g.45131081C>T		Somatic	0	88	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	69	11.54	Q5T6U2|Q9NVW4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R299	ENST00000347606.4	37	c.897	CCDS33480.1	20																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF334	protein_coding	OTTHUMT00000079575.1	C		-		45131081	-1	no_errors	ENST00000347606	ensembl	human	known	74_37	silent	SNP	0.998	T
ZNF727	442319	genome.wustl.edu	37	7	63538024	63538024	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:63538024T>C	ENST00000550760.3	+	4	776	c.597T>C	c.(595-597)agT>agC	p.S199S	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CAGATAGAAGTTACAAATGTG	0.348																																																	0								ENSG00000257482						19.0	17.0	17.0					7																	63538024		692	1587	2279	ZNF727	SO:0001819	synonymous_variant	0			-	HGNC			7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.597T>C	7.37:g.63538024T>C		Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	19	13.64		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S199	ENST00000550760.3	37	c.597	CCDS55113.1	7																																																																																			-	NULL		0.348	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	protein_coding		T	NM_001159522	-		63538024	+1	no_errors	ENST00000550760	ensembl	human	known	74_37	silent	SNP	0.000	C
SRCAP	10847	genome.wustl.edu	37	16	30734989	30734989	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:30734989T>C	ENST00000262518.4	+	25	4629	c.4244T>C	c.(4243-4245)aTg>aCg	p.M1415T	SRCAP_ENST00000395059.2_Missense_Mutation_p.M1353T|SRCAP_ENST00000344771.4_Missense_Mutation_p.M1257T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1415	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTTCTCCAATGCCAATTCCC	0.577																																																	0								ENSG00000080603						229.0	205.0	213.0					16																	30734989		2197	4300	6497	SRCAP	SO:0001583	missense	0			-	HGNC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4244T>C	16.37:g.30734989T>C	ENSP00000262518:p.Met1415Thr	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.M1415T	ENST00000262518.4	37	c.4244	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	T	6.726	0.502688	0.12822	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90955	-2.64;-2.72;-2.76	5.65	4.57	0.56435	.	0.442515	0.21991	N	0.066146	T	0.79953	0.4535	N	0.08118	0	0.09310	N	0.999999	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.006;0.006;0.002	T	0.71244	-0.4650	10	0.72032	D	0.01	-0.0166	9.1267	0.36818	0.0:0.0856:0.0:0.9144	.	1257;1353;1415	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	T	1415;1353;1257	ENSP00000262518:M1415T;ENSP00000378499:M1353T;ENSP00000343042:M1257T	ENSP00000262518:M1415T	M	+	2	0	SRCAP	30642490	0.002000	0.14202	1.000000	0.80357	0.985000	0.73830	0.642000	0.24735	2.147000	0.66899	0.455000	0.32223	ATG	-	NULL		0.577	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	protein_coding	OTTHUMT00000255523.1	T	NM_006662	-		30734989	+1	no_errors	ENST00000262518	ensembl	human	known	74_37	missense	SNP	0.792	C
VRK3	51231	genome.wustl.edu	37	19	50512498	50512498	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50512498G>A	ENST00000599538.1	-	4	948	c.284C>T	c.(283-285)tCc>tTc	p.S95F	VRK3_ENST00000593919.1_Missense_Mutation_p.S95F|VRK3_ENST00000594948.1_Missense_Mutation_p.S95F|VRK3_ENST00000377011.2_Intron|VRK3_ENST00000424804.2_5'UTR|VRK3_ENST00000594092.1_Missense_Mutation_p.S95F|VRK3_ENST00000316763.3_Missense_Mutation_p.S95F|VRK3_ENST00000601341.1_Intron|VRK3_ENST00000601912.1_Intron|VRK3_ENST00000443401.2_Intron			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	95					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTTACCTTTGGATCTCTCAGA	0.478																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)												0								ENSG00000105053						245.0	239.0	241.0					19																	50512498		2203	4300	6503	VRK3	SO:0001583	missense	0			-	HGNC	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.284C>T	19.37:g.50512498G>A	ENSP00000469880:p.Ser95Phe	Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	56	13.85	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.S95F	ENST00000599538.1	37	c.284	CCDS12791.1	19	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675696	0.67928	.	.	ENSG00000105053	ENST00000316763;ENST00000424804	T	0.26518	1.73	4.26	2.08	0.27032	.	1.813060	0.02150	N	0.057952	T	0.23451	0.0567	L	0.44542	1.39	0.19945	N	0.999944	P;P;P	0.43094	0.574;0.799;0.776	B;B;B	0.38020	0.135;0.263;0.143	T	0.22208	-1.0223	10	0.59425	D	0.04	-0.9857	5.1722	0.15116	0.1052:0.0:0.691:0.2037	.	95;95;95	E7EMG6;Q8IV63-2;Q8IV63	.;.;VRK3_HUMAN	F	95	ENSP00000324636:S95F	ENSP00000324636:S95F	S	-	2	0	VRK3	55204310	0.004000	0.15560	0.191000	0.23289	0.703000	0.40648	0.351000	0.20096	0.712000	0.32039	0.655000	0.94253	TCC	-	NULL		0.478	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	VRK3	protein_coding	OTTHUMT00000464815.1	G	NM_016440	-		50512498	-1	no_errors	ENST00000316763	ensembl	human	known	74_37	missense	SNP	0.230	A
ST18	9705	genome.wustl.edu	37	8	53126799	53126799	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:53126799C>T	ENST00000276480.7	-	7	702	c.19G>A	c.(19-21)Gat>Aat	p.D7N		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	7					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				AGCGTTTTATCTTCAGCCTCT	0.428																																																	0								ENSG00000147488						194.0	161.0	172.0					8																	53126799		2203	4300	6503	ST18	SO:0001583	missense	0			-	HGNC	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.19G>A	8.37:g.53126799C>T	ENSP00000276480:p.Asp7Asn	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	38	11.63	Q17RY1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myelin_TF,pfam_Znf_C2HC	p.D7N	ENST00000276480.7	37	c.19	CCDS6149.1	8	.	.	.	.	.	.	.	.	.	.	C	21.0	4.089818	0.76756	.	.	ENSG00000147488	ENST00000276480;ENST00000517580;ENST00000519118	T;T	0.49432	0.8;0.78	5.49	5.49	0.81192	.	0.201813	0.41823	D	0.000808	T	0.39358	0.1075	L	0.40543	1.245	0.32068	N	0.594854	B	0.13145	0.007	B	0.11329	0.006	T	0.40515	-0.9559	10	0.30078	T	0.28	-10.9808	13.4646	0.61245	0.0:0.9188:0.0:0.0812	.	7	O60284	ST18_HUMAN	N	7	ENSP00000276480:D7N;ENSP00000428521:D7N	ENSP00000276480:D7N	D	-	1	0	ST18	53289352	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.051000	0.57412	2.746000	0.94184	0.655000	0.94253	GAT	-	NULL		0.428	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	protein_coding	OTTHUMT00000377867.1	C		-		53126799	-1	no_errors	ENST00000276480	ensembl	human	known	74_37	missense	SNP	1.000	T
HS3ST3A1	9955	genome.wustl.edu	37	17	13400075	13400075	+	Silent	SNP	G	G	A	rs146268308		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:13400075G>A	ENST00000284110.1	-	2	1457	c.660C>T	c.(658-660)ttC>ttT	p.F220F	HS3ST3A1_ENST00000578576.1_Silent_p.F18F	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	220					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CCCGCGTGACGAAGTAACTGG	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18619	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000153976	G		1,4403	2.1+/-5.4	0,1,2201	64.0	77.0	72.0		660	-5.1	0.8	17	dbSNP_134	72	6,8594	5.0+/-18.6	0,6,4294	no	coding-synonymous	HS3ST3A1	NM_006042.1		0,7,6495	AA,AG,GG		0.0698,0.0227,0.0538		220/407	13400075	7,12997	2202	4300	6502	HS3ST3A1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.660C>T	17.37:g.13400075G>A		Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A8K7N2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase	p.F220	ENST00000284110.1	37	c.660	CCDS11165.1	17																																																																																			-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase		0.612	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	protein_coding	OTTHUMT00000129952.1	G	NM_006042	rs146268308		13400075	-1	no_errors	ENST00000284110	ensembl	human	known	74_37	silent	SNP	0.659	A
MIR548I2	100302277	genome.wustl.edu	37	4	9557806	9557806	+	RNA	SNP	G	G	A	rs568510694		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:9557806G>A	ENST00000408348.1	-	0	131					NR_031688.1				microRNA 548i-2																		GATCAGGGACGAACTTTGTTA	0.383													.|||	1	0.000199681	0.0	0.0	5008	,	,		19510	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000221275						172.0	193.0	187.0					4																	9557806		1568	3582	5150	MIR548I2			0			-	HGNC			4p16.1	2011-09-12		2008-12-18	ENSG00000221275	ENSG00000221275		"""ncRNAs / Micro RNAs"""	35353	non-coding RNA	RNA, micro				MIRN548I2			Standard	NR_031688		Approved	hsa-mir-548i-2	uc021xlt.1				4.37:g.9557806G>A		Somatic	0	193	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	83	20.95		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000408348.1	37	NULL		4																																																																																			-	-		0.383	MIR548I2-201	KNOWN	basic	miRNA	MIR548I2	miRNA		G	NR_031688	-		9557806	-1	no_errors	ENST00000408348	ensembl	human	known	74_37	rna	SNP	0.005	A
HIST1H3B	8358	genome.wustl.edu	37	6	26032185	26032185	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:26032185C>T	ENST00000244661.2	-	1	103	c.104G>A	c.(103-105)gGc>gAc	p.G35D		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	35					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						CTTTTTCACGCCGCCGGTAGC	0.627																																																	0								ENSG00000124693						58.0	72.0	68.0					6																	26032185		2181	4266	6447	HIST1H3B	SO:0001583	missense	0			-	HGNC	X00090	CCDS4573.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000124693	ENSG00000274267		"""Histones / Replication-dependent"""	4776	protein-coding gene	gene with protein product		602819	"""H3 histone family, member L"", ""histone 1, H3b"""	H3FL		6647026, 9119399, 12408966	Standard	NM_003537		Approved	H3/l	uc003nfs.1	P68431	OTTHUMG00000014415	ENST00000244661.2:c.104G>A	6.37:g.26032185C>T	ENSP00000244661:p.Gly35Asp	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	28	45.10	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.G35D	ENST00000244661.2	37	c.104	CCDS4573.1	6	.	.	.	.	.	.	.	.	.	.	c	12.40	1.925361	0.34002	.	.	ENSG00000124693	ENST00000244661	T	0.49139	0.79	5.19	5.19	0.71726	.	.	.	.	.	T	0.61022	0.2314	.	.	.	0.49687	D	0.999811	.	.	.	.	.	.	T	0.65606	-0.6127	6	0.87932	D	0	.	18.0628	0.89382	0.0:1.0:0.0:0.0	.	.	.	.	D	35	ENSP00000244661:G35D	ENSP00000244661:G35D	G	-	2	0	HIST1H3B	26140164	1.000000	0.71417	1.000000	0.80357	0.058000	0.15608	7.599000	0.82757	2.577000	0.86979	0.561000	0.74099	GGC	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3		0.627	HIST1H3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3B	protein_coding	OTTHUMT00000040077.1	C	NM_003537	-		26032185	-1	no_errors	ENST00000244661	ensembl	human	known	74_37	missense	SNP	1.000	T
NAV2	89797	genome.wustl.edu	37	11	20072841	20072841	+	Silent	SNP	G	G	C	rs376319838		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:20072841G>C	ENST00000396087.3	+	18	4611	c.4512G>C	c.(4510-4512)ccG>ccC	p.P1504P	NAV2_ENST00000349880.4_Silent_p.P1481P|NAV2_ENST00000540292.1_Silent_p.P1435P|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000396085.1_Silent_p.P1481P|NAV2_ENST00000311043.8_Silent_p.P545P|NAV2_ENST00000533917.1_Silent_p.P545P|NAV2_ENST00000360655.4_Silent_p.P1417P|NAV2_ENST00000527559.2_Silent_p.P1433P	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1504	Ser-rich.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACAGTGACCCGCACCTTGATA	0.493																																																	0								ENSG00000166833						226.0	184.0	198.0					11																	20072841		2203	4300	6503	NAV2	SO:0001819	synonymous_variant	0			-	HGNC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.4512G>C	11.37:g.20072841G>C		Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	25	32.43	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.P1504	ENST00000396087.3	37	c.4512	CCDS58126.1	11																																																																																			-	NULL		0.493	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	protein_coding	OTTHUMT00000324112.1	G	NM_145117	-		20072841	+1	no_errors	ENST00000396087	ensembl	human	known	74_37	silent	SNP	1.000	C
KLHL13	90293	genome.wustl.edu	37	X	117043924	117043924	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:117043924G>A	ENST00000262820.3	-	5	1615	c.706C>T	c.(706-708)Cct>Tct	p.P236S	KLHL13_ENST00000371876.1_Missense_Mutation_p.P185S|KLHL13_ENST00000469946.1_Missense_Mutation_p.P185S|KLHL13_ENST00000371878.1_Missense_Mutation_p.P185S|KLHL13_ENST00000540167.1_Missense_Mutation_p.P220S|KLHL13_ENST00000539496.1_Missense_Mutation_p.P239S|KLHL13_ENST00000371882.1_Missense_Mutation_p.P185S|KLHL13_ENST00000541812.1_Missense_Mutation_p.P220S|KLHL13_ENST00000545703.1_Missense_Mutation_p.P194S	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	236	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CGCTCAAAAGGGAGTTTCAAG	0.453																																																	0								ENSG00000003096						106.0	100.0	102.0					X																	117043924		2203	4300	6503	KLHL13	SO:0001583	missense	0			-	HGNC	AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.706C>T	X.37:g.117043924G>A	ENSP00000262820:p.Pro236Ser	Somatic	0	29	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	10	33.33	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P239S	ENST00000262820.3	37	c.715	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777009	0.31411	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	4.88	4.88	0.63580	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	N	0.11818	0.18	0.80722	D	1	B;B;B;B	0.27853	0.034;0.191;0.041;0.091	B;B;B;B	0.26517	0.042;0.048;0.042;0.07	T	0.37384	-0.9708	10	0.23302	T	0.38	.	17.1659	0.86816	0.0:0.0:1.0:0.0	.	220;239;230;236	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	S	185;185;185;185;220;220;239;236;194;185	ENSP00000360949:P185S;ENSP00000360943:P185S;ENSP00000360945:P185S;ENSP00000412640:P185S;ENSP00000444450:P220S;ENSP00000441029:P220S;ENSP00000443191:P239S;ENSP00000262820:P236S;ENSP00000440707:P194S;ENSP00000419803:P185S	ENSP00000262820:P236S	P	-	1	0	KLHL13	116927952	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.657000	0.98554	2.233000	0.73108	0.594000	0.82650	CCT	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.453	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	protein_coding		G	NM_033495	-		117043924	-1	no_errors	ENST00000539496	ensembl	human	known	74_37	missense	SNP	1.000	A
PDE3B	5140	genome.wustl.edu	37	11	14793513	14793513	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:14793513T>C	ENST00000282096.4	+	2	1362	c.1009T>C	c.(1009-1011)Tgg>Cgg	p.W337R	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Missense_Mutation_p.W337R	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	337					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to insulin stimulus (GO:0032869)|endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of lipid catabolic process (GO:0050995)|regulation of insulin secretion (GO:0050796)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)|protein kinase B binding (GO:0043422)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39					Caffeine(DB00201)	CTTAAAACAATGGTATAAGCC	0.264																																																	0								ENSG00000152270						55.0	59.0	58.0					11																	14793513		2193	4269	6462	PDE3B	SO:0001583	missense	0			-	HGNC	U38178	CCDS7817.1	11p15.2	2008-03-18			ENSG00000152270	ENSG00000152270	3.1.4.17	"""Phosphodiesterases"""	8779	protein-coding gene	gene with protein product		602047				8884271, 16395595	Standard	NM_000922		Approved	HcGIP1	uc001mln.3	Q13370	OTTHUMG00000165898	ENST00000282096.4:c.1009T>C	11.37:g.14793513T>C	ENSP00000282096:p.Trp337Arg	Somatic	0	86	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	43	20.37	B7ZM37|O00639|Q14408|Q6SEI4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.W337R	ENST00000282096.4	37	c.1009	CCDS7817.1	11	.	.	.	.	.	.	.	.	.	.	T	18.84	3.708505	0.68615	.	.	ENSG00000152270	ENST00000282096;ENST00000455098	T;T	0.72394	-0.35;-0.65	5.6	5.6	0.85130	.	3.184330	0.01191	N	0.007334	D	0.85261	0.5656	M	0.64997	1.995	0.49051	D	0.999741	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.66023	-0.6026	10	0.48119	T	0.1	.	14.0103	0.64493	0.0:0.0:0.0:1.0	.	337;337;337	B7ZM37;Q13370;A7E2E5	.;PDE3B_HUMAN;.	R	337	ENSP00000282096:W337R;ENSP00000388644:W337R	ENSP00000282096:W337R	W	+	1	0	PDE3B	14750089	1.000000	0.71417	0.997000	0.53966	0.913000	0.54294	5.509000	0.67012	2.140000	0.66376	0.477000	0.44152	TGG	-	NULL		0.264	PDE3B-001	KNOWN	basic|CCDS	protein_coding	PDE3B	protein_coding	OTTHUMT00000386974.1	T	NM_000922	-		14793513	+1	no_errors	ENST00000282096	ensembl	human	known	74_37	missense	SNP	0.996	C
TSKS	60385	genome.wustl.edu	37	19	50266372	50266372	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:50266372C>T	ENST00000246801.3	-	1	215	c.133G>A	c.(133-135)Ggg>Agg	p.G45R	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	45					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		TTCGGGATCCCCTTGGCCCGG	0.622																																																	0								ENSG00000126467						91.0	89.0	90.0					19																	50266372		2203	4300	6503	TSKS	SO:0001583	missense	0			-	HGNC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.133G>A	19.37:g.50266372C>T	ENSP00000246801:p.Gly45Arg	Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	Q8WXJ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G45R	ENST00000246801.3	37	c.133	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883923	0.51908	.	.	ENSG00000126467	ENST00000246801	T	0.36157	1.27	4.93	4.93	0.64822	.	0.000000	0.43579	D	0.000548	T	0.47210	0.1433	L	0.27053	0.805	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.50524	-0.8818	10	0.72032	D	0.01	-28.3638	15.0676	0.72008	0.0:1.0:0.0:0.0	.	45	Q9UJT2	TSKS_HUMAN	R	45	ENSP00000246801:G45R	ENSP00000246801:G45R	G	-	1	0	TSKS	54958184	1.000000	0.71417	1.000000	0.80357	0.054000	0.15201	2.612000	0.46343	2.299000	0.77371	0.467000	0.42956	GGG	-	NULL		0.622	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	C	NM_021733	-		50266372	-1	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	SNP	1.000	T
MMP25	64386	genome.wustl.edu	37	16	3100110	3100110	+	Silent	SNP	C	C	T	rs181894590	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:3100110C>T	ENST00000336577.4	+	3	570	c.333C>T	c.(331-333)agC>agT	p.S111S	RP11-473M20.7_ENST00000576250.1_RNA|MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25	126					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	ACGCTCTGAGCGGCAGCGTGT	0.697													C|||	6	0.00119808	0.0	0.0	5008	,	,		15502	0.005		0.001	False		,,,				2504	0.0				NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0								ENSG00000008516						60.0	64.0	63.0					16																	3100110		2197	4299	6496	MMP25	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.333C>T	16.37:g.3100110C>T		Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	21	24.14	Q96F04|Q96TE2	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A	p.S111	ENST00000336577.4	37	c.333	CCDS10492.1	16																																																																																			-	pirsf_Pept_M10A_Metazoans,smart_Peptidase_Metallo		0.697	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP25	protein_coding	OTTHUMT00000437116.1	C	NM_022468	rs181894590		3100110	+1	no_errors	ENST00000336577	ensembl	human	known	74_37	silent	SNP	0.180	T
PEX14	5195	genome.wustl.edu	37	1	10689963	10689963	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:10689963G>T	ENST00000356607.4	+	9	1133	c.1053G>T	c.(1051-1053)cgG>cgT	p.R351R	PEX14_ENST00000538836.1_Silent_p.R287R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	351					microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AGGACCGCCGGGGCGGGGATG	0.667																																																	0								ENSG00000142655						155.0	166.0	162.0					1																	10689963		2203	4300	6503	PEX14	SO:0001819	synonymous_variant	0			-	HGNC	AF045186	CCDS30582.1	1p36.22	2008-05-14			ENSG00000142655	ENSG00000142655			8856	protein-coding gene	gene with protein product		601791				9653144	Standard	NM_004565		Approved		uc001arn.3	O75381	OTTHUMG00000001908	ENST00000356607.4:c.1053G>T	1.37:g.10689963G>T		Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2R7N1|B3KML6|B7Z1N2|Q8WX51	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Pex14_N	p.R351	ENST00000356607.4	37	c.1053	CCDS30582.1	1																																																																																			-	NULL		0.667	PEX14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX14	protein_coding	OTTHUMT00000005414.1	G		-		10689963	+1	no_errors	ENST00000356607	ensembl	human	known	74_37	silent	SNP	1.000	T
ATG13	9776	genome.wustl.edu	37	11	46681022	46681022	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:46681022C>T	ENST00000434074.1	+	10	1465	c.776C>T	c.(775-777)tCc>tTc	p.S259F	ATG13_ENST00000451945.1_Missense_Mutation_p.S259F|ATG13_ENST00000312040.4_Missense_Mutation_p.S259F|ATG13_ENST00000528494.1_Missense_Mutation_p.S259F|ATG13_ENST00000359513.4_Missense_Mutation_p.S259F|ATG13_ENST00000529655.1_Missense_Mutation_p.S259F|ATG13_ENST00000530500.1_Missense_Mutation_p.S180F|ATG13_ENST00000526508.1_Missense_Mutation_p.S259F|ATG13_ENST00000524625.1_Missense_Mutation_p.S259F	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	259					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						TTTTCCACCTCCCCACCATCC	0.443																																																	0								ENSG00000175224						83.0	75.0	77.0					11																	46681022		2201	4299	6500	ATG13	SO:0001583	missense	0			-	HGNC	AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.776C>T	11.37:g.46681022C>T	ENSP00000400642:p.Ser259Phe	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Autophagy-rel_p13	p.S259F	ENST00000434074.1	37	c.776	CCDS44582.1	11	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862004	0.91433	.	.	ENSG00000175224	ENST00000395549;ENST00000434074;ENST00000312040;ENST00000451945;ENST00000529655;ENST00000530500;ENST00000526508;ENST00000524625;ENST00000359513;ENST00000528494	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.77558	0.4148	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	0.981;0.999;1.0;0.996	P;D;D;P	0.87578	0.642;0.996;0.998;0.885	T	0.78059	-0.2352	9	0.87932	D	0	-6.823	20.0118	0.97458	0.0:1.0:0.0:0.0	.	180;259;259;259	B4DFI4;O75143;E9PQZ8;O75143-2	.;ATG13_HUMAN;.;.	F	259;259;259;259;259;180;259;259;259;259	.	ENSP00000310321:S259F	S	+	2	0	ATG13	46637598	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	6.970000	0.76099	2.742000	0.94016	0.650000	0.86243	TCC	-	NULL		0.443	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	protein_coding	OTTHUMT00000390300.2	C	NM_014741	-		46681022	+1	no_errors	ENST00000312040	ensembl	human	known	74_37	missense	SNP	1.000	T
PLEKHG4B	153478	genome.wustl.edu	37	5	169651	169651	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:169651G>A	ENST00000283426.6	+	12	2655	c.2605G>A	c.(2605-2607)Gag>Aag	p.E869K		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	869	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CTTCCTCCGGGAGCTGGAGCG	0.627																																																	0								ENSG00000153404						72.0	74.0	74.0					5																	169651		2203	4300	6503	PLEKHG4B	SO:0001583	missense	0			-	HGNC	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2605G>A	5.37:g.169651G>A	ENSP00000283426:p.Glu869Lys	Somatic	1	106	0.93		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	49	32.88		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.E869K	ENST00000283426.6	37	c.2605	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629111	0.87560	.	.	ENSG00000153404	ENST00000283426	T	0.30714	1.52	3.55	3.55	0.40652	Dbl homology (DH) domain (5);	.	.	.	.	T	0.56587	0.1995	M	0.83384	2.64	0.37054	D	0.897757	D	0.89917	1.0	D	0.81914	0.995	T	0.69072	-0.5242	9	0.87932	D	0	.	12.6189	0.56592	0.0:0.0:1.0:0.0	.	869	Q96PX9	PKH4B_HUMAN	K	869	ENSP00000283426:E869K	ENSP00000283426:E869K	E	+	1	0	PLEKHG4B	222651	1.000000	0.71417	0.702000	0.30337	0.893000	0.52053	8.115000	0.89572	1.514000	0.48869	0.467000	0.42956	GAG	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.627	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	protein_coding	OTTHUMT00000365359.1	G	NM_052909	-		169651	+1	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	SNP	0.997	A
ATAD5	79915	genome.wustl.edu	37	17	29205036	29205036	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29205036G>A	ENST00000321990.4	+	17	4312	c.3934G>A	c.(3934-3936)Gat>Aat	p.D1312N		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1312					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TGTAATTTTTGATGAAGATGC	0.284																																																	0								ENSG00000176208						95.0	104.0	101.0					17																	29205036		2203	4299	6502	ATAD5	SO:0001583	missense	0			-	HGNC		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3934G>A	17.37:g.29205036G>A	ENSP00000313171:p.Asp1312Asn	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	37	29.63	Q05DH0|Q69YR6|Q9H9I1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D1312N	ENST00000321990.4	37	c.3934	CCDS11260.1	17	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546428	0.86022	.	.	ENSG00000176208	ENST00000321990	T	0.18016	2.24	5.0	5.0	0.66597	ATPase, AAA+ type, core (1);	0.219468	0.45867	D	0.000325	T	0.24084	0.0583	L	0.45352	1.415	0.47778	D	0.999514	D	0.56035	0.974	P	0.50136	0.632	T	0.01448	-1.1352	10	0.23302	T	0.38	.	18.3397	0.90300	0.0:0.0:1.0:0.0	.	1312	Q96QE3	ATAD5_HUMAN	N	1312	ENSP00000313171:D1312N	ENSP00000313171:D1312N	D	+	1	0	ATAD5	26229162	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	6.998000	0.76277	2.320000	0.78422	0.485000	0.47835	GAT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.284	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD5	protein_coding	OTTHUMT00000256206.2	G	NM_024857	-		29205036	+1	no_errors	ENST00000321990	ensembl	human	known	74_37	missense	SNP	1.000	A
CXorf22	170063	genome.wustl.edu	37	X	35944249	35944249	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:35944249C>T	ENST00000297866.5	+	2	431	c.365C>T	c.(364-366)tCa>tTa	p.S122L		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	122										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTACTTATTTCAATAGAAAAT	0.348																																																	0								ENSG00000165164						44.0	43.0	44.0					X																	35944249		2202	4299	6501	CXorf22	SO:0001583	missense	0			-	HGNC	BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.365C>T	X.37:g.35944249C>T	ENSP00000297866:p.Ser122Leu	Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	17	55.26	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_PapD-like	p.S122L	ENST00000297866.5	37	c.365	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.531826	0.00145	.	.	ENSG00000165164	ENST00000297866	T	0.14516	2.5	4.73	0.0857	0.14443	.	0.703744	0.13841	N	0.359010	T	0.08358	0.0208	L	0.46157	1.445	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.42447	-0.9451	10	0.07175	T	0.84	-18.0566	2.7098	0.05171	0.2153:0.3494:0.0:0.4353	.	122	Q6ZTR5	CX022_HUMAN	L	122	ENSP00000297866:S122L	ENSP00000297866:S122L	S	+	2	0	CXorf22	35854170	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.264000	0.08658	0.028000	0.15324	-0.297000	0.09499	TCA	-	NULL		0.348	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	protein_coding	OTTHUMT00000056216.2	C	NM_152632	-		35944249	+1	no_errors	ENST00000297866	ensembl	human	known	74_37	missense	SNP	0.000	T
PTK2	5747	genome.wustl.edu	37	8	141745469	141745469	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:141745469A>C	ENST00000522684.1	-	22	2140	c.1911T>G	c.(1909-1911)aaT>aaG	p.N637K	PTK2_ENST00000538769.1_Missense_Mutation_p.N305K|PTK2_ENST00000519419.1_Missense_Mutation_p.N681K|PTK2_ENST00000340930.3_Missense_Mutation_p.N637K|PTK2_ENST00000517887.1_Missense_Mutation_p.N681K|PTK2_ENST00000521059.1_Missense_Mutation_p.N637K|PTK2_ENST00000535192.1_Missense_Mutation_p.N637K|PTK2_ENST00000395218.2_Missense_Mutation_p.N637K|MIR151A_ENST00000521276.1_RNA|PTK2_ENST00000519465.1_Missense_Mutation_p.N265K	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATCTTTCCCCATTTTCAATTC	0.478																																																	0								ENSG00000169398						170.0	141.0	151.0					8																	141745469		2203	4300	6503	PTK2	SO:0001583	missense	0			-	HGNC	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1911T>G	8.37:g.141745469A>C	ENSP00000429911:p.Asn637Lys	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	85	13.27	B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N637K	ENST00000522684.1	37	c.1911	CCDS6381.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.98|11.98	1.801958|1.801958	0.31869|0.31869	.|.	.|.	ENSG00000169398|ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207|ENST00000519654	D;D;D;D;D;D;D;D;D;D;D|.	0.81908|.	-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55;-1.55|.	5.51|5.51	0.415|0.415	0.16411|0.16411	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.27663|0.27663	0.0680|0.0680	N|N	0.03983|0.03983	-0.305|-0.305	0.53005|0.53005	D|D	0.999966|0.999966	D;D;D;D;D;D;D;B;B;B|.	0.76494|.	0.994;0.968;0.998;0.992;0.979;0.99;0.999;0.198;0.278;0.089|.	D;P;D;D;D;D;D;B;B;B|.	0.76071|.	0.963;0.831;0.987;0.943;0.962;0.923;0.955;0.108;0.413;0.113|.	T|T	0.04065|0.04065	-1.0980|-1.0980	10|5	0.49607|.	T|.	0.09|.	.|.	10.1223|10.1223	0.42627|0.42627	0.6161:0.0:0.3839:0.0|0.6161:0.0:0.3839:0.0	.|.	637;332;557;637;659;637;589;485;305;265|.	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4|.	.;.;.;FAK1_HUMAN;.;.;.;.;.;.|.	K|G	637;637;265;681;637;589;637;558;332;309;637;305;681;335;483|648	ENSP00000429911:N637K;ENSP00000438009:N637K;ENSP00000429170:N265K;ENSP00000429082:N681K;ENSP00000429474:N637K;ENSP00000378644:N637K;ENSP00000428492:N309K;ENSP00000341189:N637K;ENSP00000445742:N305K;ENSP00000429129:N681K;ENSP00000430603:N335K|.	ENSP00000341189:N637K|.	N|W	-|-	3|1	2|0	PTK2|PTK2	141814651|141814651	0.994000|0.994000	0.37717|0.37717	0.997000|0.997000	0.53966|0.53966	0.999000|0.999000	0.98932|0.98932	0.371000|0.371000	0.20450|0.20450	-0.145000|-0.145000	0.11294|0.11294	0.533000|0.533000	0.62120|0.62120	AAT|TGG	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.478	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	protein_coding	OTTHUMT00000378054.5	A	NM_005607	-		141745469	-1	no_errors	ENST00000395218	ensembl	human	known	74_37	missense	SNP	0.997	C
COL5A3	50509	genome.wustl.edu	37	19	10083624	10083624	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:10083624G>A	ENST00000264828.3	-	51	3830	c.3745C>T	c.(3745-3747)Cct>Tct	p.P1249S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1249	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCCTCTCCAGGGGGACCTTTC	0.592																																																	0								ENSG00000080573						38.0	31.0	33.0					19																	10083624		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3745C>T	19.37:g.10083624G>A	ENSP00000264828:p.Pro1249Ser	Somatic	0	154	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	62	20.51	Q9NZQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P1249S	ENST00000264828.3	37	c.3745	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	G	15.78	2.933873	0.52866	.	.	ENSG00000080573	ENST00000264828	D	0.93307	-3.2	4.73	3.7	0.42460	.	0.077061	0.52532	U	0.000066	D	0.90338	0.6977	M	0.63843	1.955	0.48901	D	0.999722	B	0.29988	0.264	B	0.23852	0.049	D	0.88346	0.2978	10	0.51188	T	0.08	.	10.7218	0.46044	0.0933:0.0:0.9067:0.0	.	1249	P25940	CO5A3_HUMAN	S	1249	ENSP00000264828:P1249S	ENSP00000264828:P1249S	P	-	1	0	COL5A3	9944624	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	4.848000	0.62874	1.222000	0.43521	-0.258000	0.10820	CCT	-	NULL		0.592	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	G	NM_015719	-		10083624	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	0.920	A
ADAMTS20	80070	genome.wustl.edu	37	12	43771331	43771331	+	Missense_Mutation	SNP	C	C	T	rs561936298		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:43771331C>T	ENST00000389420.3	-	32	4831	c.4832G>A	c.(4831-4833)aGg>aAg	p.R1611K		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1611	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATATGTAATCCTTTGTCTGTA	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		19186	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000173157						104.0	100.0	102.0					12																	43771331		2203	4300	6503	ADAMTS20	SO:0001583	missense	0			-	HGNC	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4832G>A	12.37:g.43771331C>T	ENSP00000374071:p.Arg1611Lys	Somatic	0	80	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	34	20.93	A6NNC9|J3QT00	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1611K	ENST00000389420.3	37	c.4832	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696520	0.48202	.	.	ENSG00000173157	ENST00000389420	T	0.61158	0.13	5.08	3.21	0.36854	.	0.105342	0.41001	N	0.000965	T	0.47600	0.1454	L	0.40543	1.245	0.80722	D	1	B	0.27679	0.185	B	0.33454	0.164	T	0.37103	-0.9720	10	0.36615	T	0.2	.	8.8957	0.35463	0.0:0.703:0.0:0.2969	.	1611	P59510	ATS20_HUMAN	K	1611	ENSP00000374071:R1611K	ENSP00000374071:R1611K	R	-	2	0	ADAMTS20	42057598	1.000000	0.71417	0.988000	0.46212	0.816000	0.46133	0.819000	0.27308	0.778000	0.33520	0.655000	0.94253	AGG	-	superfamily_Thrombospondin_1_rpt		0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	protein_coding	OTTHUMT00000403643.1	C	NM_025003	-		43771331	-1	no_errors	ENST00000389420	ensembl	human	known	74_37	missense	SNP	0.998	T
MFAP1	4236	genome.wustl.edu	37	15	44102103	44102103	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:44102103C>T	ENST00000267812.3	-	7	1129	c.897G>A	c.(895-897)aaG>aaA	p.K299K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	299					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGCTTTCTCCTTCTCAAGCC	0.423																																																	0								ENSG00000140259						197.0	176.0	184.0					15																	44102103		2198	4298	6496	MFAP1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.897G>A	15.37:g.44102103C>T		Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	25	34.21	Q86TG6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MFAP1_C	p.K299	ENST00000267812.3	37	c.897	CCDS10105.1	15																																																																																			-	pfam_MFAP1_C		0.423	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	protein_coding	OTTHUMT00000133491.2	C	NM_005926	-		44102103	-1	no_errors	ENST00000267812	ensembl	human	known	74_37	silent	SNP	1.000	T
TVP23C	201158	genome.wustl.edu	37	17	15468850	15468850	+	5'Flank	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:15468850G>A	ENST00000225576.3	-	0	0				TVP23C_ENST00000519970.1_5'Flank|TVP23C_ENST00000518321.1_5'Flank|TVP23C-CDRT4_ENST00000522212.2_5'Flank|CDRT1_ENST00000312127.2_Silent_p.I243I|TVP23C_ENST00000584811.1_5'Flank|TVP23C_ENST00000438826.3_5'Flank|TVP23C_ENST00000428082.2_5'Flank	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											GGCTGGTTTAGATAAATACAT	0.403																																																	0								ENSG00000181464																																			CDRT1	SO:0001631	upstream_gene_variant	0			-	Uniprot_gn	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461		17.37:g.15468850G>A	Exception_encountered	Somatic	0	245	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	114	15.56	Q3LIC7	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I243	ENST00000225576.3	37	c.729	CCDS11170.1	17																																																																																			-	NULL		0.403	TVP23C-001	KNOWN	basic|CCDS	protein_coding	101928503	protein_coding	OTTHUMT00000130705.2	G	NM_145301	-		15468850	-1	no_errors	ENST00000312127	ensembl	human	known	74_37	silent	SNP	1.000	A
PTHLH	5744	genome.wustl.edu	37	12	28114897	28114898	+	Intron	INS	-	-	T	rs377014358		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:28114897_28114898insT	ENST00000545234.1	-	5	1065				RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000538310.1_Frame_Shift_Ins_p.K186fs|PTHLH_ENST00000539239.1_Intron|PTHLH_ENST00000395872.1_Intron|PTHLH_ENST00000354417.3_Frame_Shift_Ins_p.K186fs			P12272	PTHR_HUMAN	parathyroid hormone-like hormone						adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					TGTTGTTTTCCTTTTTTTTTTT	0.337																																																	0								ENSG00000087494																																			PTHLH	SO:0001627	intron_variant	0				HGNC		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.524+1382->A	12.37:g.28114908_28114908dupT		Somatic	0	21	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	Q15251|Q6FH74	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.E187fs	ENST00000545234.1	37	c.558_557	CCDS44853.1	12																																																																																			-	NULL		0.337	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	protein_coding	OTTHUMT00000402913.1	-	NM_198965			28114898	-1	no_errors	ENST00000354417	ensembl	human	known	74_37	frame_shift_ins	INS	0.126:0.135	T
UAP1L1	91373	genome.wustl.edu	37	9	139975207	139975207	+	Silent	SNP	C	C	T	rs373573211		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139975207C>T	ENST00000409858.3	+	7	1277	c.1245C>T	c.(1243-1245)gcC>gcT	p.A415A	UAP1L1_ENST00000360271.3_Silent_p.A292A	NM_207309.2	NP_997192.2	Q3KQV9	UAP1L_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1 like 1	415							uridylyltransferase activity (GO:0070569)			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CAGAGCCAGCCGACAGGGACA	0.667																																																	0								ENSG00000197355	C		0,4406		0,0,2203	65.0	68.0	67.0		1245	-8.2	0.0	9		67	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	UAP1L1	NM_207309.2		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		415/508	139975207	1,13003	2203	4299	6502	UAP1L1	SO:0001819	synonymous_variant	0			-	HGNC	AK022632	CCDS7028.2	9q34.3	2014-07-31	2014-07-31		ENSG00000197355	ENSG00000197355			28082	protein-coding gene	gene with protein product							Standard	NM_207309		Approved		uc010ncb.3	Q3KQV9	OTTHUMG00000020962	ENST00000409858.3:c.1245C>T	9.37:g.139975207C>T		Somatic	0	138	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	66	18.52	A2AMJ8|Q5SPZ2|Q69YQ3|Q6ZR38	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_UDPGP_trans	p.A415	ENST00000409858.3	37	c.1245	CCDS7028.2	9																																																																																			-	pfam_UDPGP_trans		0.667	UAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UAP1L1	protein_coding	OTTHUMT00000055216.2	C	XM_038063	-		139975207	+1	no_errors	ENST00000409858	ensembl	human	known	74_37	silent	SNP	0.000	T
NRIP1	8204	genome.wustl.edu	37	21	16337333	16337333	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr21:16337333A>T	ENST00000400202.1	-	3	3893	c.3181T>A	c.(3181-3183)Ttg>Atg	p.L1061M	NRIP1_ENST00000400199.1_Missense_Mutation_p.L1061M|NRIP1_ENST00000318948.4_Missense_Mutation_p.L1061M|AF127577.10_ENST00000446301.1_RNA			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1061	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GTTTTGGTCAATCTTGGAGAG	0.433																																																	0								ENSG00000180530						168.0	162.0	164.0					21																	16337333		2203	4300	6503	NRIP1	SO:0001583	missense	0			-	HGNC	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3181T>A	21.37:g.16337333A>T	ENSP00000383063:p.Leu1061Met	Somatic	0	95	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	42	14.29	Q8IWE8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L1061M	ENST00000400202.1	37	c.3181	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733010	0.48939	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.19938	2.11;2.11;2.11	5.81	4.93	0.64822	.	0.000000	0.56097	D	0.000022	T	0.39682	0.1087	L	0.58101	1.795	0.42246	D	0.991953	D	0.89917	1.0	D	0.83275	0.996	T	0.23226	-1.0194	10	0.59425	D	0.04	-24.811	9.4842	0.38919	0.2119:0.0:0.7881:0.0	.	1061	P48552	NRIP1_HUMAN	M	1061	ENSP00000383060:L1061M;ENSP00000383063:L1061M;ENSP00000327213:L1061M	ENSP00000327213:L1061M	L	-	1	2	NRIP1	15259204	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	2.982000	0.49337	1.606000	0.50161	-0.132000	0.14878	TTG	-	NULL		0.433	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	protein_coding	OTTHUMT00000157926.1	A	NM_003489	-		16337333	-1	no_errors	ENST00000318948	ensembl	human	known	74_37	missense	SNP	1.000	T
C1orf111	284680	genome.wustl.edu	37	1	162348707	162348707	+	5'Flank	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:162348707C>T	ENST00000367935.5	-	0	0				RP11-565P22.6_ENST00000431696.1_Intron|C1orf226_ENST00000426197.2_Silent_p.L2L|C1orf226_ENST00000458626.2_5'Flank	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111											central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			CCGAGGTATGCTGGTGCTGGT	0.547																																																	0								ENSG00000239887						192.0	166.0	174.0					1																	162348707		692	1591	2283	C1orf226	SO:0001631	upstream_gene_variant	0			-	HGNC	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375		1.37:g.162348707C>T	Exception_encountered	Somatic	0	84	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q6X961|Q8NEC3	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L2	ENST00000367935.5	37	c.4	CCDS1238.1	1																																																																																			-	NULL		0.547	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf226	protein_coding	OTTHUMT00000076791.2	C	NM_182581	-		162348707	+1	no_errors	ENST00000426197	ensembl	human	known	74_37	silent	SNP	0.000	T
PCDHB13	56123	genome.wustl.edu	37	5	140595648	140595648	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140595648G>T	ENST00000341948.4	+	1	2140	c.1953G>T	c.(1951-1953)ccG>ccT	p.P651P		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	651	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)			GCGAGCCTCCGCGCTCGGCCA	0.726																																																	0								ENSG00000187372						15.0	18.0	17.0					5																	140595648		1667	3369	5036	PCDHB13	SO:0001819	synonymous_variant	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.1953G>T	5.37:g.140595648G>T		Somatic	0	135	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	37	40.32	A8K9V6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P651	ENST00000341948.4	37	c.1953	CCDS4255.1	5																																																																																			-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.726	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	protein_coding	OTTHUMT00000251810.1	G	NM_018933	-		140595648	+1	no_errors	ENST00000341948	ensembl	human	known	74_37	silent	SNP	0.886	T
YAF2	10138	genome.wustl.edu	37	12	42554627	42554627	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:42554627G>A	ENST00000534854.2	-	4	374	c.307C>T	c.(307-309)Cca>Tca	p.P103S	YAF2_ENST00000380788.3_Splice_Site_p.P94S|YAF2_ENST00000380790.4_Splice_Site_p.P61S|YAF2_ENST00000442791.3_Splice_Site_p.P127S|YAF2_ENST00000327791.4_Splice_Site_p.P79S	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	103					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		TTCAATCTTGGCCTAAACATA	0.308																																																	0								ENSG00000015153						37.0	37.0	37.0					12																	42554627		2202	4299	6501	YAF2	SO:0001630	splice_region_variant	0			-	HGNC	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.306-1C>T	12.37:g.42554627G>A		Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.P127S	ENST00000534854.2	37	c.379	CCDS31775.1	12	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670569	0.67814	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.79143	0.4396	M	0.72894	2.215	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.996;0.998;0.994	T	0.77667	-0.2502	9	0.40728	T	0.16	.	19.2823	0.94057	0.0:0.0:1.0:0.0	.	61;94;79;103	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	S	79;127;103;61;94	.	ENSP00000328004:P79S	P	-	1	0	YAF2	40840894	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.414000	0.97362	2.550000	0.86006	0.655000	0.94253	CCA	-	NULL		0.308	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	protein_coding	OTTHUMT00000403781.1	G		-	Missense_Mutation	42554627	-1	no_errors	ENST00000442791	ensembl	human	known	74_37	missense	SNP	1.000	A
WDR87	83889	genome.wustl.edu	37	19	38383645	38383645	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:38383645G>A	ENST00000303868.5	-	4	2805	c.2581C>T	c.(2581-2583)Ctt>Ttt	p.L861F	WDR87_ENST00000447313.2_Missense_Mutation_p.L900F	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	861										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						CCATCTGTAAGGACACTGTAG	0.393																																																	0								ENSG00000171804						103.0	82.0	89.0					19																	38383645		692	1591	2283	WDR87	SO:0001583	missense	0			-	HGNC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2581C>T	19.37:g.38383645G>A	ENSP00000368025:p.Leu861Phe	Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50	Q9BWV9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L900F	ENST00000303868.5	37	c.2698	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	0.987	-0.695212	0.03303	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.14766	2.48;2.48	5.4	-1.6	0.08426	.	0.461581	0.18106	N	0.151522	T	0.15132	0.0365	M	0.70275	2.135	0.09310	N	1	B;B	0.17667	0.023;0.023	B;B	0.19666	0.026;0.026	T	0.28839	-1.0031	10	0.87932	D	0	-5.4023	9.3724	0.38261	0.4563:0.0:0.5437:0.0	.	861;900	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	F	900;861	ENSP00000405012:L900F;ENSP00000368025:L861F	ENSP00000368025:L861F	L	-	1	0	WDR87	43075485	0.624000	0.27102	0.009000	0.14445	0.013000	0.08279	-0.064000	0.11636	-0.051000	0.13334	-0.152000	0.13540	CTT	-	NULL		0.393	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	protein_coding	OTTHUMT00000314628.2	G	XM_940478	-		38383645	-1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	SNP	0.000	A
LTBP3	4054	genome.wustl.edu	37	11	65325325	65325326	+	In_Frame_Ins	INS	-	-	CAGCAG	rs535365850|rs577530923|rs71036212	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:65325325_65325326insCAGCAG	ENST00000301873.5	-	1	373_374	c.105_106insCTGCTG	c.(103-108)ctgggc>ctgCTGCTGggc	p.34_35insLL	LTBP3_ENST00000536982.1_5'Flank|LTBP3_ENST00000322147.4_In_Frame_Ins_p.34_35insLL	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	34	Gly-rich.			Missing (in Ref. 2; BAB15767). {ECO:0000305}.	bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ccgcccaggcccagcagcagca	0.812														259	0.0517173	0.0182	0.0504	5008	,	,		4999	0.0258		0.1034	False		,,,				2504	0.0716																0								ENSG00000168056																																			LTBP3	SO:0001652	inframe_insertion	0				HGNC	AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.100_105dupCTGCTG	11.37:g.65325326_65325331dupCAGCAG	ENSP00000301873:p.Leu33_Leu34dup	Somatic	NA	NA	NA		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	O15107|Q96HB9|Q9H7K2|Q9UFN4	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.35in_frame_insLL	ENST00000301873.5	37	c.106_105	CCDS44647.1	11																																																																																			-	NULL		0.812	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	protein_coding	OTTHUMT00000390538.1	-	NM_021070			65325326	-1	no_errors	ENST00000301873	ensembl	human	known	74_37	in_frame_ins	INS	1.000:0.996	CAGCAG
LRFN5	145581	genome.wustl.edu	37	14	42356729	42356729	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:42356729G>A	ENST00000298119.4	+	3	2090	c.901G>A	c.(901-903)Gga>Aga	p.G301R	LRFN5_ENST00000554171.1_Missense_Mutation_p.G301R|LRFN5_ENST00000554120.1_Missense_Mutation_p.G301R	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	301	Ig-like.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGTCCTGGAGGGACAAAGGGC	0.468										HNSCC(30;0.082)																																							0								ENSG00000165379						111.0	106.0	108.0					14																	42356729		2203	4300	6503	LRFN5	SO:0001583	missense	0			-	HGNC	AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.901G>A	14.37:g.42356729G>A	ENSP00000298119:p.Gly301Arg	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	24	25.00	B3KU78|Q86XL2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G301R	ENST00000298119.4	37	c.901	CCDS9678.1	14	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789784	0.70337	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.81330	-1.48;-1.48;-1.48	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.56097	D	0.000021	D	0.92854	0.7727	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94588	0.7785	10	0.87932	D	0	.	17.0338	0.86468	0.0:0.0:1.0:0.0	.	301;301	G3V364;Q96NI6	.;LRFN5_HUMAN	R	301	ENSP00000298119:G301R;ENSP00000451897:G301R;ENSP00000451067:G301R	ENSP00000298119:G301R	G	+	1	0	LRFN5	41426479	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.680000	0.91292	0.563000	0.77884	GGA	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	protein_coding	OTTHUMT00000276786.1	G	NM_152447	-		42356729	+1	no_errors	ENST00000298119	ensembl	human	known	74_37	missense	SNP	1.000	A
ITIH2	3698	genome.wustl.edu	37	10	7762847	7762847	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:7762847G>A	ENST00000358415.4	+	7	825	c.659G>A	c.(658-660)gGa>gAa	p.G220E	ITIH2_ENST00000379587.4_Missense_Mutation_p.G209E|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	220					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAACCACAGGGACTGAGATTT	0.403																																																	0								ENSG00000151655						154.0	133.0	140.0					10																	7762847		2203	4300	6503	ITIH2	SO:0001583	missense	0			-	HGNC	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.659G>A	10.37:g.7762847G>A	ENSP00000351190:p.Gly220Glu	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	20	32.26	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G220E	ENST00000358415.4	37	c.659	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980684	0.53827	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.22945	4.59;1.93;4.59	5.11	5.11	0.69529	.	0.052289	0.85682	D	0.000000	T	0.57858	0.2082	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65796	-0.6081	10	0.87932	D	0	-20.0491	18.557	0.91089	0.0:0.0:1.0:0.0	.	220	P19823	ITIH2_HUMAN	E	220;195;209	ENSP00000351190:G220E;ENSP00000388826:G195E;ENSP00000368906:G209E	ENSP00000351190:G220E	G	+	2	0	ITIH2	7802853	1.000000	0.71417	0.941000	0.38009	0.009000	0.06853	6.367000	0.73099	2.364000	0.80123	0.455000	0.32223	GGA	-	NULL		0.403	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	protein_coding	OTTHUMT00000046678.2	G	NM_002216	-		7762847	+1	no_errors	ENST00000358415	ensembl	human	known	74_37	missense	SNP	0.994	A
SBF1	6305	genome.wustl.edu	37	22	50900238	50900238	+	Missense_Mutation	SNP	G	G	A	rs528597678		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50900238G>A	ENST00000390679.3	-	21	2814	c.2630C>T	c.(2629-2631)cCg>cTg	p.P877L	SBF1_ENST00000380817.3_Missense_Mutation_p.P877L|SBF1_ENST00000348911.6_Missense_Mutation_p.P878L			O95248	MTMR5_HUMAN	SET binding factor 1	877					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTGGATGGGCGGCAGCCTCCG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		14352	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000100241						31.0	37.0	35.0					22																	50900238		1932	4123	6055	SBF1	SO:0001583	missense	0			-	HGNC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.2630C>T	22.37:g.50900238G>A	ENSP00000375097:p.Pro877Leu	Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	13	35.00	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.P877L	ENST00000390679.3	37	c.2630		22	.	.	.	.	.	.	.	.	.	.	G	17.54	3.414297	0.62511	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.90069	-2.61;-2.61;-2.61	4.04	4.04	0.47022	.	0.282115	0.34700	N	0.003741	D	0.92919	0.7747	L	0.60455	1.87	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.93719	0.7031	10	0.66056	D	0.02	.	15.9917	0.80211	0.0:0.0:1.0:0.0	.	877;878;877	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	L	877;878;888;887;877	ENSP00000370196:P877L;ENSP00000252027:P878L;ENSP00000375097:P877L	ENSP00000336522:P887L	P	-	2	0	SBF1	49247104	1.000000	0.71417	0.999000	0.59377	0.056000	0.15407	7.479000	0.81095	2.098000	0.63641	0.563000	0.77884	CCG	-	NULL		0.657	SBF1-201	KNOWN	basic	protein_coding	SBF1	protein_coding		G		-		50900238	-1	no_errors	ENST00000380817	ensembl	human	known	74_37	missense	SNP	1.000	A
SLCO1A2	6579	genome.wustl.edu	37	12	21450399	21450399	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21450399G>A	ENST00000307378.6	-	10	1734	c.1014C>T	c.(1012-1014)ttC>ttT	p.F338F	SLCO1A2_ENST00000537524.1_Silent_p.F206F|SLCO1A2_ENST00000458504.1_Silent_p.F206F|SLCO1A2_ENST00000390670.3_Silent_p.F336F|SLCO1A2_ENST00000452078.1_Silent_p.F338F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	338					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATTTAGGCATGAAGGAGATCA	0.353																																																	0								ENSG00000084453						143.0	133.0	136.0					12																	21450399		2203	4300	6503	SLCO1A2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1014C>T	12.37:g.21450399G>A		Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	15	37.50	Q9UGP7|Q9UL38	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F338	ENST00000307378.6	37	c.1014	CCDS8686.1	12																																																																																			-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.353	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	protein_coding	OTTHUMT00000343648.3	G	NM_021094	-		21450399	-1	no_errors	ENST00000307378	ensembl	human	known	74_37	silent	SNP	1.000	A
FMNL2	114793	genome.wustl.edu	37	2	153417452	153417452	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:153417452C>T	ENST00000288670.9	+	6	866	c.499C>T	c.(499-501)Ccc>Tcc	p.P167S		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	167	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAAATCAAAGCCCTGGAGTAG	0.493																																																	0								ENSG00000157827						47.0	50.0	49.0					2																	153417452		1901	4119	6020	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.499C>T	2.37:g.153417452C>T	ENSP00000288670:p.Pro167Ser	Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	36.84	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.P167S	ENST00000288670.9	37	c.499	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085932	0.76642	.	.	ENSG00000157827	ENST00000288670	T	0.75821	-0.97	5.62	5.62	0.85841	.	0.151595	0.64402	D	0.000011	T	0.71762	0.3378	N	0.05124	-0.11	0.80722	D	1	D	0.67145	0.996	D	0.78314	0.991	T	0.66424	-0.5927	10	0.07990	T	0.79	.	20.024	0.97514	0.0:1.0:0.0:0.0	.	167	Q96PY5-3	.	S	167	ENSP00000288670:P167S	ENSP00000288670:P167S	P	+	1	0	FMNL2	153125698	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.271000	0.43364	2.809000	0.96659	0.655000	0.94253	CCC	-	superfamily_ARM-type_fold		0.493	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	C	NM_052905	-		153417452	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	1.000	T
OR52E8	390079	genome.wustl.edu	37	11	5878606	5878606	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5878606G>A	ENST00000537935.1	-	1	358	c.327C>T	c.(325-327)ttC>ttT	p.F109F	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	109						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAAATGGATGAAGAACATGT	0.468																																																	0								ENSG00000183269						179.0	195.0	190.0					11																	5878606		2152	4296	6448	OR52E8	SO:0001819	synonymous_variant	0			-	HGNC	BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.327C>T	11.37:g.5878606G>A		Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	18	41.94	B9EH38	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F109	ENST00000537935.1	37	c.327	CCDS31400.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52E8	protein_coding	OTTHUMT00000401145.1	G	NM_001005168	-		5878606	-1	no_errors	ENST00000537935	ensembl	human	known	74_37	silent	SNP	0.998	A
EIF2AK1	27102	genome.wustl.edu	37	7	6068553	6068553	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:6068553C>T	ENST00000199389.6	-	12	1589	c.1443G>A	c.(1441-1443)ggG>ggA	p.G481G	EIF2AK1_ENST00000536084.1_Silent_p.G357G|ANKRD61_ENST00000409061.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	481	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ACTTACTCTTCCCGTTTCTGT	0.368																																																	0								ENSG00000086232						85.0	82.0	83.0					7																	6068553		2203	4300	6503	EIF2AK1	SO:0001819	synonymous_variant	0			-	HGNC	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1443G>A	7.37:g.6068553C>T		Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	23	39.47	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.G481	ENST00000199389.6	37	c.1443	CCDS5345.1	7																																																																																			-	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		0.368	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	protein_coding	OTTHUMT00000207373.2	C	NM_014413	-		6068553	-1	no_errors	ENST00000199389	ensembl	human	known	74_37	silent	SNP	0.974	T
KCNV1	27012	genome.wustl.edu	37	8	110984547	110984547	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:110984547C>A	ENST00000524391.1	-	3	1963	c.931G>T	c.(931-933)Gtc>Ttc	p.V311F	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.V311F			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	311					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AACACCTGGACAATGCGCCCC	0.527																																																	0								ENSG00000164794						88.0	76.0	80.0					8																	110984547		2203	4300	6503	KCNV1	SO:0001583	missense	0			-	HGNC	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.931G>T	8.37:g.110984547C>A	ENSP00000435954:p.Val311Phe	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q9UHJ4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4	p.V311F	ENST00000524391.1	37	c.931	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	C	22.9	4.352144	0.82132	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98362	-4.89;-4.89	5.95	5.95	0.96441	Ion transport (1);	0.127686	0.51477	D	0.000091	D	0.97701	0.9246	L	0.28649	0.875	0.58432	D	0.999999	D	0.63880	0.993	P	0.61070	0.883	D	0.96928	0.9679	10	0.27082	T	0.32	.	19.3629	0.94448	0.0:1.0:0.0:0.0	.	311	Q6PIU1	KCNV1_HUMAN	F	311;311;187	ENSP00000435954:V311F;ENSP00000297404:V311F	ENSP00000297404:V311F	V	-	1	0	KCNV1	111053723	1.000000	0.71417	0.978000	0.43139	0.917000	0.54804	4.890000	0.63178	2.817000	0.96982	0.563000	0.77884	GTC	-	pfam_Ion_trans_dom		0.527	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	protein_coding	OTTHUMT00000385525.1	C	NM_014379	-		110984547	-1	no_errors	ENST00000297404	ensembl	human	known	74_37	missense	SNP	1.000	A
RNF112	7732	genome.wustl.edu	37	17	19316653	19316653	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:19316653G>A	ENST00000461366.1	+	5	864	c.649G>A	c.(649-651)Ggc>Agc	p.G217S	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	217	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTGCAGGTGGGGCGCCAATGG	0.637																																																	0								ENSG00000128482						21.0	25.0	23.0					17																	19316653		1952	4131	6083	RNF112	SO:0001583	missense	0			-	HGNC	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.649G>A	17.37:g.19316653G>A	ENSP00000454919:p.Gly217Ser	Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	30	43.40	O60633|Q7Z5V9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_Znf_RING	p.G217S	ENST00000461366.1	37	c.649	CCDS58529.1	17																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.637	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	RNF112	protein_coding	OTTHUMT00000132549.4	G	NM_007148	-		19316653	+1	no_errors	ENST00000461366	ensembl	human	novel	74_37	missense	SNP	0.793	A
AQP12A	375318	genome.wustl.edu	37	2	241631582	241631582	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:241631582G>A	ENST00000337801.4	+	2	284	c.215G>A	c.(214-216)gGg>gAg	p.G72E	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Missense_Mutation_p.G84E	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	72						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		CTGGCGCACGGGGTCACCTTG	0.667																																																	0								ENSG00000184945						30.0	45.0	40.0					2																	241631582		2151	4265	6416	AQP12A	SO:0001583	missense	0			-	HGNC	AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.215G>A	2.37:g.241631582G>A	ENSP00000337144:p.Gly72Glu	Somatic	0	185	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	73	19.78		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.G84E	ENST00000337801.4	37	c.251		2	.	.	.	.	.	.	.	.	.	.	.	12.61	1.989564	0.35131	.	.	ENSG00000184945	ENST00000337801;ENST00000429564;ENST00000420599	T;T	0.25250	1.81;1.81	2.58	2.58	0.30949	Aquaporin-like (2);	0.185774	0.46758	D	0.000264	T	0.48040	0.1478	M	0.78801	2.425	0.35769	D	0.820745	D	0.89917	1.0	D	0.80764	0.994	T	0.62348	-0.6873	10	0.62326	D	0.03	-0.4396	10.9317	0.47222	0.0:0.0:1.0:0.0	.	72	Q8IXF9	AQ12A_HUMAN	E	72;84;57	ENSP00000337144:G72E;ENSP00000405899:G84E	ENSP00000337144:G72E	G	+	2	0	AQP12A	241280255	1.000000	0.71417	0.668000	0.29813	0.072000	0.16883	3.634000	0.54302	1.474000	0.48178	0.186000	0.17326	GGG	-	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_MIP		0.667	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	protein_coding	OTTHUMT00000257185.2	G	NM_198998	-		241631582	+1	no_errors	ENST00000429564	ensembl	human	known	74_37	missense	SNP	0.830	A
OR51F1	256892	genome.wustl.edu	37	11	4790811	4790811	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:4790811C>T	ENST00000380383.1	-	1	357	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.E113K|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ACTCCAGATTCCATAAAAGTG	0.418																																																	0								ENSG00000188069						68.0	67.0	67.0					11																	4790811		2201	4298	6499	OR51F1	SO:0001583	missense	0			-	HGNC	BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.358G>A	11.37:g.4790811C>T	ENSP00000369744:p.Glu120Lys	Somatic	0	18	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E120K	ENST00000380383.1	37	c.358		11	.	.	.	.	.	.	.	.	.	.	c	17.90	3.501850	0.64298	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.40225	1.04;1.04	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.113705	0.38492	N	0.001676	T	0.74023	0.3662	H	0.98786	4.33	0.29018	N	0.886444	D	0.56968	0.978	P	0.54499	0.754	T	0.79778	-0.1660	10	0.87932	D	0	.	16.8643	0.86025	0.0:1.0:0.0:0.0	.	120	A6NGY5	O51F1_HUMAN	K	113;120	ENSP00000345163:E113K;ENSP00000369744:E120K	ENSP00000345163:E113K	E	-	1	0	OR51F1	4747387	0.053000	0.20554	0.898000	0.35279	0.674000	0.39518	1.944000	0.40263	2.567000	0.86603	0.586000	0.80456	GAA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.418	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	protein_coding		C	NM_001004752	-		4790811	-1	no_errors	ENST00000380383	ensembl	human	known	74_37	missense	SNP	0.723	T
STX3	6809	genome.wustl.edu	37	11	59540716	59540716	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:59540716G>A	ENST00000337979.4	+	2	610	c.63G>A	c.(61-63)gcG>gcA	p.A21A	STX3_ENST00000535361.1_Silent_p.A21A|STX3_ENST00000437946.2_5'UTR|STX3_ENST00000300150.7_5'UTR|STX3_ENST00000529177.1_Silent_p.A21A	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	21					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.A21A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATACTGATGCGGTTGAGATTG	0.388																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000166900						224.0	209.0	214.0					11																	59540716		2201	4295	6496	STX3	SO:0001819	synonymous_variant	0			-	HGNC	AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.63G>A	11.37:g.59540716G>A		Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	32	27.27	B4DME0|O43750|O43751|Q15360	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.A21	ENST00000337979.4	37	c.63	CCDS7975.1	11																																																																																			-	NULL		0.388	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX3	protein_coding	OTTHUMT00000394264.1	G	NM_004177	-		59540716	+1	no_errors	ENST00000337979	ensembl	human	known	74_37	silent	SNP	0.989	A
GLI1	2735	genome.wustl.edu	37	12	57859404	57859404	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:57859404G>A	ENST00000228682.2	+	6	640	c.549G>A	c.(547-549)ctG>ctA	p.L183L	GLI1_ENST00000546141.1_Silent_p.L142L|GLI1_ENST00000543426.1_Silent_p.L55L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	183					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCTGAGCTGGACATGCTGG	0.562																																					Pancreas(157;841 1936 10503 41495 50368)												0								ENSG00000111087						67.0	55.0	59.0					12																	57859404		2203	4300	6503	GLI1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.549G>A	12.37:g.57859404G>A		Somatic	0	33	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L183	ENST00000228682.2	37	c.549	CCDS8940.1	12																																																																																			-	NULL		0.562	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLI1	protein_coding	OTTHUMT00000394197.1	G	NM_005269	-		57859404	+1	no_errors	ENST00000228682	ensembl	human	known	74_37	silent	SNP	1.000	A
POLQ	10721	genome.wustl.edu	37	3	121203989	121203989	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:121203989G>A	ENST00000264233.5	-	17	5800	c.5672C>T	c.(5671-5673)cCc>cTc	p.P1891L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1891					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ACCTTTAATGGGAAATCCATC	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0								ENSG00000051341						118.0	113.0	115.0					3																	121203989		2203	4300	6503	POLQ	SO:0001583	missense	0			-	HGNC	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5672C>T	3.37:g.121203989G>A	ENSP00000264233:p.Pro1891Leu	Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	19	55.81	O95160|Q6VMB5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.P1891L	ENST00000264233.5	37	c.5672	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588948	0.28357	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.54071	0.59	5.63	3.78	0.43462	.	0.132000	0.51477	D	0.000096	T	0.52224	0.1721	L	0.40543	1.245	0.44652	D	0.997636	B;D	0.57899	0.049;0.981	B;P	0.55508	0.018;0.777	T	0.43114	-0.9411	10	0.17832	T	0.49	.	10.7884	0.46419	0.0681:0.0:0.801:0.1309	.	1891;1063	O75417;O75417-2	DPOLQ_HUMAN;.	L	1514;1891;2027	ENSP00000264233:P1891L	ENSP00000264233:P1891L	P	-	2	0	POLQ	122686679	1.000000	0.71417	0.761000	0.31378	0.093000	0.18481	3.909000	0.56363	1.404000	0.46819	-0.136000	0.14681	CCC	-	NULL		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	protein_coding	OTTHUMT00000355097.1	G	NM_199420	-		121203989	-1	no_errors	ENST00000264233	ensembl	human	known	74_37	missense	SNP	0.981	A
PTGFRN	5738	genome.wustl.edu	37	1	117532884	117532884	+	3'UTR	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:117532884T>A	ENST00000393203.2	+	0	6082					NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor						lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCCAATGTTATATGAACTAAT	0.294																																																	0								ENSG00000134247																																			PTGFRN	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.*3295T>A	1.37:g.117532884T>A		Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	Q5VVU9|Q8N2K6	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000393203.2	37	NULL	CCDS890.1	1																																																																																			-	-		0.294	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	protein_coding	OTTHUMT00000033271.1	T	NM_020440	-		117532884	+1	no_errors	ENST00000497385	ensembl	human	known	74_37	rna	SNP	1.000	A
AFF2	2334	genome.wustl.edu	37	X	147744270	147744270	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:147744270C>T	ENST00000370460.2	+	3	1501	c.1022C>T	c.(1021-1023)aCc>aTc	p.T341I	AFF2_ENST00000342251.3_Missense_Mutation_p.T337I|AFF2_ENST00000370458.1_Missense_Mutation_p.T337I|AFF2_ENST00000370457.5_Missense_Mutation_p.T337I	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	341					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGTTCACCATCCTCCAA	0.368																																																	0								ENSG00000155966						36.0	34.0	35.0					X																	147744270		2201	4294	6495	AFF2	SO:0001583	missense	0			-	HGNC	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.1022C>T	X.37:g.147744270C>T	ENSP00000359489:p.Thr341Ile	Somatic	0	75	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	20	56.52	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_AF4/FMR2	p.T341I	ENST00000370460.2	37	c.1022	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539000	0.45176	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000370458	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.92	5.05	0.67936	.	0.049990	0.85682	D	0.000000	T	0.64983	0.2648	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B;D	0.69078	0.379;0.379;0.379;0.379;0.433;0.997	B;B;B;B;B;D	0.64042	0.155;0.155;0.155;0.155;0.241;0.921	T	0.67428	-0.5673	10	0.72032	D	0.01	.	10.2069	0.43118	0.1418:0.7829:0.0:0.0753	.	341;337;337;337;341;337	P51816-6;P51816-3;P51816-2;P51816-5;P51816;P51816-4	.;.;.;.;AFF2_HUMAN;.	I	341;337;337;337	ENSP00000359489:T341I;ENSP00000359486:T337I;ENSP00000345459:T337I;ENSP00000359487:T337I	ENSP00000345459:T337I	T	+	2	0	AFF2	147551962	0.966000	0.33281	0.970000	0.41538	0.959000	0.62525	2.182000	0.42556	2.492000	0.84095	0.600000	0.82982	ACC	-	pfam_TF_AF4/FMR2		0.368	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	C	NM_002025	-		147744270	+1	no_errors	ENST00000370460	ensembl	human	known	74_37	missense	SNP	0.934	T
SLC25A48	153328	genome.wustl.edu	37	5	135207469	135207469	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:135207469G>A	ENST00000420621.1	+	5	851				SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000433282.2_Intron|SLC25A48_ENST00000274513.5_Silent_p.G247G|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GACAGCTGGGGAACTGCCATG	0.642																																																	0								ENSG00000145832						26.0	27.0	27.0					5																	135207469		1986	4159	6145	SLC25A48	SO:0001627	intron_variant	0			-	HGNC		CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.679+62G>A	5.37:g.135207469G>A		Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	12	53.85	Q8TAV9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.G247	ENST00000420621.1	37	c.741		5																																																																																			-	NULL		0.642	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	protein_coding		G	NM_145282	-		135207469	+1	no_errors	ENST00000274513	ensembl	human	known	74_37	silent	SNP	0.000	A
ZNF555	148254	genome.wustl.edu	37	19	2850662	2850662	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:2850662C>T	ENST00000334241.4	+	2	219	c.81C>T	c.(79-81)gaC>gaT	p.D27D	ZNF555_ENST00000591539.1_Silent_p.D27D|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	27	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCAGAGGGACCTCTACAGAG	0.458																																																	0								ENSG00000186300						192.0	171.0	178.0					19																	2850662		2203	4300	6503	ZNF555	SO:0001819	synonymous_variant	0			-	HGNC	AL832140	CCDS12096.1, CCDS59329.1	19p13.3	2013-09-20			ENSG00000186300	ENSG00000186300		"""Zinc fingers, C2H2-type"", ""-"""	28382	protein-coding gene	gene with protein product						12477932	Standard	NM_152791		Approved	MGC26707	uc002lwo.3	Q8NEP9	OTTHUMG00000180500	ENST00000334241.4:c.81C>T	19.37:g.2850662C>T		Somatic	0	115	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68	A8KA89|K7EQM2|Q8NA46|Q96MP1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D27	ENST00000334241.4	37	c.81	CCDS12096.1	19																																																																																			-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.458	ZNF555-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF555	protein_coding	OTTHUMT00000451637.3	C	NM_152791	-		2850662	+1	no_errors	ENST00000334241	ensembl	human	known	74_37	silent	SNP	0.770	T
TTLL8	164714	genome.wustl.edu	37	22	50485695	50485695	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:50485695G>A	ENST00000266182.6	-	4	294	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	TTLL8_ENST00000477219.1_5'UTR|TTLL8_ENST00000440475.1_Missense_Mutation_p.L99F			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	135					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTCCAGAGGAGGTACGGCATC	0.488																																																	0								ENSG00000138892						160.0	163.0	162.0					22																	50485695		2065	4217	6282	TTLL8	SO:0001583	missense	0			-	HGNC			22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.295C>T	22.37:g.50485695G>A	ENSP00000266182:p.Leu99Phe	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	33	19.51	B5MDV0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TTL/TTLL_fam	p.L99F	ENST00000266182.6	37	c.295		22	.	.	.	.	.	.	.	.	.	.	G	0.356	-0.942126	0.02322	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.02916	4.11;4.11;4.11	5.07	-0.0193	0.13960	.	0.536654	0.18154	N	0.149997	T	0.01156	0.0038	N	0.03084	-0.415	0.26869	N	0.967783	B	0.14438	0.01	B	0.15052	0.012	T	0.48352	-0.9043	10	0.02654	T	1	.	8.6893	0.34256	0.6599:0.0:0.3401:0.0	.	99	B5MDV0	.	F	99;99;135	ENSP00000266182:L99F;ENSP00000387509:L99F;ENSP00000392252:L135F	ENSP00000266182:L99F	L	-	1	0	TTLL8	48827822	1.000000	0.71417	0.366000	0.25914	0.596000	0.36781	0.916000	0.28651	-0.048000	0.13401	-0.377000	0.06932	CTC	-	NULL		0.488	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	protein_coding		G	NM_001080447	-		50485695	-1	no_errors	ENST00000266182	ensembl	human	known	74_37	missense	SNP	0.982	A
HERC1	8925	genome.wustl.edu	37	15	63955209	63955209	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:63955209G>A	ENST00000443617.2	-	44	8962	c.8875C>T	c.(8875-8877)Cca>Tca	p.P2959S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2959					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGTACCTCTGGGATCCACATT	0.473																																																	0								ENSG00000103657						87.0	88.0	87.0					15																	63955209		2110	4242	6352	HERC1	SO:0001583	missense	0			-	HGNC	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.8875C>T	15.37:g.63955209G>A	ENSP00000390158:p.Pro2959Ser	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	21	32.26	Q8IW65	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens	p.P2959S	ENST00000443617.2	37	c.8875	CCDS45277.1	15	.	.	.	.	.	.	.	.	.	.	G	27.9	4.871761	0.91587	.	.	ENSG00000103657	ENST00000443617	T	0.25250	1.81	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.47060	0.1425	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.29610	-1.0006	10	0.66056	D	0.02	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	2959	Q15751	HERC1_HUMAN	S	2959	ENSP00000390158:P2959S	ENSP00000390158:P2959S	P	-	1	0	HERC1	61742262	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.864000	0.99589	2.801000	0.96364	0.650000	0.86243	CCA	-	NULL		0.473	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC1	protein_coding	OTTHUMT00000418523.1	G	NM_003922	-		63955209	-1	no_errors	ENST00000443617	ensembl	human	known	74_37	missense	SNP	1.000	A
SLC26A10	65012	genome.wustl.edu	37	12	58015566	58015566	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:58015566G>A	ENST00000320442.4	+	4	960	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	SLC26A10_ENST00000379218.2_Missense_Mutation_p.E217K|AC025165.8_ENST00000593846.1_RNA	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	217						integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|sulfate transmembrane transporter activity (GO:0015116)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GCCGGTCAAGGAATTGAACGT	0.687											OREG0021948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000135502						19.0	21.0	20.0					12																	58015566		2202	4296	6498	SLC26A10	SO:0001583	missense	0			-	HGNC		CCDS8949.2	12q13	2013-07-18			ENSG00000135502	ENSG00000135502		"""Solute carriers"""	14470	protein-coding gene	gene with protein product							Standard	NM_133489		Approved		uc001spe.3	Q8NG04	OTTHUMG00000128505	ENST00000320442.4:c.649G>A	12.37:g.58015566G>A	ENSP00000320217:p.Glu217Lys	Somatic	0	17	0.00	1027	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	9	30.77	A6NMJ2|B6ZDQ3|Q6ZWI7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.E217K	ENST00000320442.4	37	c.649	CCDS8949.2	12	.	.	.	.	.	.	.	.	.	.	.	36	5.778747	0.96929	.	.	ENSG00000135502	ENST00000320442;ENST00000379218	D;D	0.92752	-3.1;-3.1	3.79	3.79	0.43588	Sulphate transporter (1);	.	.	.	.	D	0.92570	0.7640	L	0.31526	0.94	0.47778	D	0.999515	D	0.76494	0.999	D	0.85130	0.997	D	0.91947	0.5568	9	0.41790	T	0.15	.	13.5555	0.61757	0.0:0.0:1.0:0.0	.	217	Q8NG04	S2610_HUMAN	K	217	ENSP00000320217:E217K;ENSP00000368520:E217K	ENSP00000320217:E217K	E	+	1	0	SLC26A10	56301833	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.459000	0.73513	2.140000	0.66376	0.555000	0.69702	GAA	-	pfam_Sulph_transpt		0.687	SLC26A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A10	protein_coding	OTTHUMT00000250311.2	G		-		58015566	+1	no_errors	ENST00000320442	ensembl	human	known	74_37	missense	SNP	1.000	A
OMG	4974	genome.wustl.edu	37	17	29622771	29622771	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:29622771G>A	ENST00000247271.4	-	2	840	c.579C>T	c.(577-579)ctC>ctT	p.L193L	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	193					cell adhesion (GO:0007155)|negative regulation of axonogenesis (GO:0050771)|neuron projection regeneration (GO:0031102)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|regulation of collateral sprouting of intact axon in response to injury (GO:0048683)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		AAAGATGTGTGAGATTTGTCA	0.378																																																	11	Whole gene deletion(8)|Unknown(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)						ENSG00000126861						193.0	197.0	195.0					17																	29622771		2203	4300	6503	OMG	SO:0001819	synonymous_variant	0			-	HGNC		CCDS11265.1	17q11-q12	2008-07-18			ENSG00000126861	ENSG00000126861			8135	protein-coding gene	gene with protein product		164345				1899288, 2277079	Standard	NM_002544		Approved	OMGP	uc002hgj.3	P23515	OTTHUMG00000132870	ENST00000247271.4:c.579C>T	17.37:g.29622771G>A		Somatic	0	100	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	49	22.22	E1P659	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.L193	ENST00000247271.4	37	c.579	CCDS11265.1	17																																																																																			-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.378	OMG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OMG	protein_coding	OTTHUMT00000256350.2	G	NM_002544	-		29622771	-1	no_errors	ENST00000247271	ensembl	human	known	74_37	silent	SNP	0.958	A
BAIAP2L1	55971	genome.wustl.edu	37	7	97949598	97949598	+	Missense_Mutation	SNP	A	A	G	rs369919591		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:97949598A>G	ENST00000005260.8	-	4	442	c.227T>C	c.(226-228)aTa>aCa	p.I76T	RP11-307C18.1_ENST00000610062.1_RNA|BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	76	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGAAATCTCTATGAGGACATG	0.393																																																	0								ENSG00000006453						90.0	86.0	88.0					7																	97949598		2203	4300	6503	BAIAP2L1	SO:0001583	missense	0			-	HGNC	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.227T>C	7.37:g.97949598A>G	ENSP00000005260:p.Ile76Thr	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.I76T	ENST00000005260.8	37	c.227	CCDS34687.1	7	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153418	0.78114	.	.	ENSG00000006453	ENST00000005260	T	0.21932	1.98	5.71	5.71	0.89125	IRSp53/MIM homology domain (IMD) (3);	0.073817	0.85682	D	0.000000	T	0.30166	0.0756	L	0.52573	1.65	0.47276	D	0.99937	P	0.48834	0.916	P	0.51701	0.677	T	0.02269	-1.1185	10	0.18276	T	0.48	-12.0958	15.1704	0.72869	1.0:0.0:0.0:0.0	.	76	Q9UHR4	BI2L1_HUMAN	T	76	ENSP00000005260:I76T	ENSP00000005260:I76T	I	-	2	0	AC093799.1	97787534	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.751000	0.68720	2.180000	0.69256	0.533000	0.62120	ATA	-	pfam_IRSp53/MIM_homology_IMD		0.393	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAIAP2L1	protein_coding	OTTHUMT00000334681.1	A	NM_018842	-		97949598	-1	no_errors	ENST00000005260	ensembl	human	known	74_37	missense	SNP	1.000	G
MCF2	4168	genome.wustl.edu	37	X	138678842	138678842	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:138678842C>T	ENST00000370576.4	-	19	2352	c.2143G>A	c.(2143-2145)Gat>Aat	p.D715N	MCF2_ENST00000536274.1_Missense_Mutation_p.D676N|MCF2_ENST00000338585.6_Missense_Mutation_p.D731N|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000414978.1_Missense_Mutation_p.D775N|MCF2_ENST00000370578.4_Missense_Mutation_p.D860N|MCF2_ENST00000370573.4_Missense_Mutation_p.D715N|MCF2_ENST00000519895.1_Missense_Mutation_p.D791N|MCF2_ENST00000520602.1_Missense_Mutation_p.D775N	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	715	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTAGCCAAATCCTTCATTTTT	0.408																																																	0								ENSG00000101977						194.0	162.0	173.0					X																	138678842		2203	4300	6503	MCF2	SO:0001583	missense	0			-	HGNC		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2143G>A	X.37:g.138678842C>T	ENSP00000359608:p.Asp715Asn	Somatic	0	56	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.D860N	ENST00000370576.4	37	c.2578	CCDS14667.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.125124|5.125124	0.94429|0.94429	.|.	.|.	ENSG00000101977|ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000446225;ENST00000519895;ENST00000370573;ENST00000338585|ENST00000437564	T;T;T;T;T;T;T;T;T|.	0.52983|.	1.2;1.09;1.01;1.19;1.2;0.64;1.25;1.12;1.15|.	5.78|5.78	5.78|5.78	0.91487|0.91487	Pleckstrin homology-type (1);Pleckstrin homology domain (2);|.	0.135518|.	0.64402|.	D|.	0.000002|.	D|D	0.83294|0.83294	0.5223|0.5223	M|M	0.86651|0.86651	2.83|2.83	0.49798|0.49798	D|D	0.999823|0.999823	D;D;D;D;D;D;D;D|.	0.71674|.	0.992;0.992;0.997;0.997;0.998;0.997;0.998;0.996|.	P;P;D;D;D;D;D;D|.	0.70016|.	0.89;0.859;0.948;0.951;0.967;0.928;0.957;0.924|.	D|D	0.85194|0.85194	0.1011|0.1011	10|5	0.66056|.	D|.	0.02|.	.|.	17.7793|17.7793	0.88518|0.88518	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	791;860;676;715;715;860;731;715|.	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911|.	.;.;.;.;.;.;.;MCF2_HUMAN|.	N|E	775;715;676;860;775;318;791;715;731|218	ENSP00000427745:D775N;ENSP00000359608:D715N;ENSP00000438155:D676N;ENSP00000359610:D860N;ENSP00000397055:D775N;ENSP00000405848:D318N;ENSP00000430276:D791N;ENSP00000359605:D715N;ENSP00000342204:D731N|.	ENSP00000342204:D731N|.	D|G	-|-	1|2	0|0	MCF2|MCF2	138506508|138506508	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	7.792000|7.792000	0.85828|0.85828	2.417000|2.417000	0.82017|0.82017	0.600000|0.600000	0.82982|0.82982	GAT|GGA	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.408	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	protein_coding	OTTHUMT00000058560.1	C	NM_005369	-		138678842	-1	no_errors	ENST00000370578	ensembl	human	known	74_37	missense	SNP	1.000	T
SPRED2	200734	genome.wustl.edu	37	2	65541002	65541002	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:65541002G>A	ENST00000356388.4	-	6	1079	c.890C>T	c.(889-891)tCg>tTg	p.S297L	SPRED2_ENST00000474228.1_5'Flank|SPRED2_ENST00000443619.2_Missense_Mutation_p.S294L	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	297					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.S297L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGCCGCCGCGACTTGCCCCG	0.677																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000198369						44.0	50.0	48.0					2																	65541002		2202	4298	6500	SPRED2	SO:0001583	missense	0			-	HGNC	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.890C>T	2.37:g.65541002G>A	ENSP00000348753:p.Ser297Leu	Somatic	0	90	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.S297L	ENST00000356388.4	37	c.890	CCDS33211.1	2	.	.	.	.	.	.	.	.	.	.	G	15.83	2.949414	0.53186	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.78003	-1.14;-1.13;-1.14;-0.14	5.75	3.81	0.43845	.	0.287715	0.33110	N	0.005275	T	0.76637	0.4015	M	0.71581	2.175	0.36141	D	0.846799	B;B	0.13145	0.007;0.006	B;B	0.06405	0.002;0.002	T	0.78927	-0.2011	10	0.48119	T	0.1	-7.7818	15.7879	0.78322	0.0:0.2573:0.7427:0.0	.	294;297	E9PEP0;Q7Z698	.;SPRE2_HUMAN	L	297;294;312;179	ENSP00000348753:S297L;ENSP00000393697:S294L;ENSP00000390595:S312L;ENSP00000407627:S179L	ENSP00000348753:S297L	S	-	2	0	SPRED2	65394506	1.000000	0.71417	0.982000	0.44146	0.944000	0.59088	2.893000	0.48633	1.395000	0.46643	0.655000	0.94253	TCG	-	NULL		0.677	SPRED2-001	KNOWN	basic|CCDS	protein_coding	SPRED2	protein_coding	OTTHUMT00000327632.1	G		-		65541002	-1	no_errors	ENST00000356388	ensembl	human	known	74_37	missense	SNP	1.000	A
ACACB	32	genome.wustl.edu	37	12	109634872	109634872	+	Silent	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:109634872T>C	ENST00000338432.7	+	17	2660	c.2541T>C	c.(2539-2541)atT>atC	p.I847I	ACACB_ENST00000377848.3_Silent_p.I847I|ACACB_ENST00000377854.5_Silent_p.I847I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	847					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	ACATCGAGATTGATGCCCACC	0.582																																																	0								ENSG00000076555						71.0	60.0	64.0					12																	109634872		2203	4300	6503	ACACB	SO:0001819	synonymous_variant	0			-	HGNC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2541T>C	12.37:g.109634872T>C		Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.I847	ENST00000338432.7	37	c.2541	CCDS31898.1	12																																																																																			-	NULL		0.582	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	T	NM_001093	-		109634872	+1	no_errors	ENST00000338432	ensembl	human	known	74_37	silent	SNP	0.941	C
MAPK10	5602	genome.wustl.edu	37	4	87023134	87023134	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:87023134C>T	ENST00000359221.3	-	7	1003	c.477G>A	c.(475-477)atG>atA	p.M159I	MAPK10_ENST00000395166.1_Missense_Mutation_p.M121I|MAPK10_ENST00000395157.3_Missense_Mutation_p.M14I|MAPK10_ENST00000361569.2_Missense_Mutation_p.M159I|MAPK10_ENST00000395161.2_Missense_Mutation_p.M159I|MAPK10_ENST00000395160.3_Missense_Mutation_p.M14I|MAPK10_ENST00000449047.2_Missense_Mutation_p.M14I|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395169.3_Missense_Mutation_p.M121I			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		GGTCTAATTCCATCTGAATCA	0.408																																																	0								ENSG00000109339						277.0	256.0	263.0					4																	87023134		2203	4300	6503	MAPK10	SO:0001583	missense	0			-	HGNC	U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.477G>A	4.37:g.87023134C>T	ENSP00000352157:p.Met159Ile	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom	p.M159I	ENST00000359221.3	37	c.477	CCDS34026.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124650|4.124650	0.77436|0.77436	.|.	.|.	ENSG00000109339|ENSG00000109339	ENST00000515400|ENST00000395169;ENST00000359221;ENST00000395157;ENST00000361569;ENST00000395166;ENST00000395160;ENST00000449047;ENST00000395161	.|D;D;D;D;D;D;D;D	.|0.82619	.|-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.94|5.94	5.94|5.94	0.96194|0.96194	.|Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (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|T	0.74711|0.74711	0.3752|0.3752	N|N	0.04148|0.04148	-0.265|-0.265	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B	.|0.20052	.|0.007;0.041;0.015;0.015;0.017	.|B;B;B;B;B	.|0.34452	.|0.03;0.183;0.066;0.066;0.156	T|T	0.70876|0.70876	-0.4753|-0.4753	6|10	0.87932|0.59425	D|D	0|0.04	-24.7942|-24.7942	20.3771|20.3771	0.98923|0.98923	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|45;14;121;159;159	.|B7Z1Z1;Q499Y8;P53779-3;P53779-2;P53779	.|.;.;.;.;MK10_HUMAN	R|I	72|121;159;14;159;121;14;14;159	.|ENSP00000378598:M121I;ENSP00000352157:M159I;ENSP00000378586:M14I;ENSP00000355297:M159I;ENSP00000378595:M121I;ENSP00000378589:M14I;ENSP00000414469:M14I;ENSP00000378590:M159I	ENSP00000309857:G140R|ENSP00000352157:M159I	G|M	-|-	1|3	0|0	MAPK10|MAPK10	87242158|87242158	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.730000|7.730000	0.84881|0.84881	2.824000|2.824000	0.97209|0.97209	0.650000|0.650000	0.86243|0.86243	GGA|ATG	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_MAPK_JNK,pfscan_Prot_kinase_dom		0.408	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	protein_coding	OTTHUMT00000361363.2	C		-		87023134	-1	no_errors	ENST00000359221	ensembl	human	known	74_37	missense	SNP	1.000	T
SWT1	54823	genome.wustl.edu	37	1	185143987	185143987	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:185143987C>T	ENST00000367500.4	+	5	873	c.708C>T	c.(706-708)atC>atT	p.I236I	SWT1_ENST00000367501.3_Silent_p.I236I	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	236								p.I236I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GTTTCAAAATCCCTATAAAAT	0.353																																																	1	Substitution - coding silent(1)	kidney(1)						ENSG00000116668						80.0	90.0	87.0					1																	185143987		2202	4300	6502	SWT1	SO:0001819	synonymous_variant	0			-	HGNC	AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.708C>T	1.37:g.185143987C>T		Somatic	0	90	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	Q8NEK9|Q9BZQ7|Q9NXQ0	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_PIN_dom	p.I236	ENST00000367500.4	37	c.708	CCDS1367.1	1																																																																																			-	NULL		0.353	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	protein_coding	OTTHUMT00000085790.1	C	NM_017673	-		185143987	+1	no_errors	ENST00000367500	ensembl	human	known	74_37	silent	SNP	0.525	T
PI4KA	5297	genome.wustl.edu	37	22	21084217	21084217	+	Silent	SNP	G	G	A	rs377578674		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21084217G>A	ENST00000572273.1	-	37	4427	c.4197C>T	c.(4195-4197)ccC>ccT	p.P1399P	PI4KA_ENST00000414196.3_Silent_p.P209P|PI4KA_ENST00000255882.6_Silent_p.P1457P			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1399					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CGCTGGACAGGGGGTATGTGT	0.547																																					GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						113.0	81.0	91.0					22																	21084217		2203	4300	6503	PI4KA	SO:0001819	synonymous_variant	0			-	HGNC	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4197C>T	22.37:g.21084217G>A		Somatic	0	71	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q7Z625|Q9UPG2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P1457	ENST00000572273.1	37	c.4371		22																																																																																			-	NULL		0.547	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21084217	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	silent	SNP	0.812	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37729196	37729196	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:37729196G>A	ENST00000330843.4	-	4	3136	c.3124C>T	c.(3124-3126)Cct>Tct	p.P1042S	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1042					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGCTCTGAAGGAGCTGTCACA	0.567																																																	0								ENSG00000156675						60.0	69.0	66.0					8																	37729196		2203	4300	6503	RAB11FIP1	SO:0001583	missense	0			-	HGNC	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.3124C>T	8.37:g.37729196G>A	ENSP00000331342:p.Pro1042Ser	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.P1042S	ENST00000330843.4	37	c.3124	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457580	0.04508	.	.	ENSG00000156675	ENST00000330843	T	0.12147	2.71	5.05	0.105	0.14535	.	0.853264	0.10017	N	0.726491	T	0.05410	0.0143	N	0.08118	0	0.27551	N	0.950501	B;B	0.17038	0.02;0.004	B;B	0.16722	0.016;0.002	T	0.39901	-0.9591	10	0.33141	T	0.24	-0.0025	0.5367	0.00638	0.419:0.2233:0.1729:0.1848	.	371;1042	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	S	1042	ENSP00000331342:P1042S	ENSP00000331342:P1042S	P	-	1	0	RAB11FIP1	37848354	0.045000	0.20229	0.017000	0.16124	0.086000	0.17979	0.710000	0.25748	0.122000	0.18314	0.655000	0.94253	CCT	-	NULL		0.567	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	protein_coding	OTTHUMT00000376816.1	G	NM_025151	-		37729196	-1	no_errors	ENST00000330843	ensembl	human	known	74_37	missense	SNP	0.020	A
GCN1L1	10985	genome.wustl.edu	37	12	120580482	120580482	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:120580482C>T	ENST00000300648.6	-	44	5670	c.5658G>A	c.(5656-5658)ttG>ttA	p.L1886L		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1886					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAGCCCTGCCAACACCCGGT	0.617																																																	0								ENSG00000089154						39.0	46.0	44.0					12																	120580482		1979	4143	6122	GCN1L1	SO:0001819	synonymous_variant	0			-	HGNC	U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5658G>A	12.37:g.120580482C>T		Somatic	0	98	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	34	22.73	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.L1886	ENST00000300648.6	37	c.5658	CCDS41847.1	12																																																																																			-	superfamily_ARM-type_fold		0.617	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCN1L1	protein_coding	OTTHUMT00000403592.1	C		-		120580482	-1	no_errors	ENST00000300648	ensembl	human	known	74_37	silent	SNP	1.000	T
BCRP7	100133163	genome.wustl.edu	37	22	18846102	18846102	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:18846102G>A	ENST00000412938.1	+	0	3460																											CTCGGCGCTCGATCTCCTCCA	0.627																																																	0								ENSG00000161103																																			AC008132.13	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene																												ENST00000412938.1:c.*3457G>A	22.37:g.18846102G>A		Somatic	1	561	0.18		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	243	8.30		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000412938.1	37	NULL		22																																																																																			-	-		0.627	AC008132.13-002	KNOWN	basic	processed_transcript	ENSG00000161103	protein_coding	OTTHUMT00000471615.1	G		-		18846102	+1	no_errors	ENST00000412938	ensembl	human	known	74_37	rna	SNP	1.000	A
ZNF595	152687	genome.wustl.edu	37	4	86773	86773	+	3'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:86773C>T	ENST00000339368.6	+	0	1582							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGTGGCAAAGCCTTTACACGG	0.393																																																	0								ENSG00000197701						35.0	39.0	38.0					4																	86773		2141	4271	6412	ZNF595	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1579C>T	4.37:g.86773C>T		Somatic	0	28	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			-	-		0.393	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	protein_coding	OTTHUMT00000357814.2	C	NM_182524	-		86773	+1	no_errors	ENST00000339368	ensembl	human	known	74_37	rna	SNP	0.144	T
TMEM255B	348013	genome.wustl.edu	37	13	114514803	114514803	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:114514803C>T	ENST00000375353.3	+	9	935	c.908C>T	c.(907-909)cCc>cTc	p.P303L	TMEM255B_ENST00000467169.1_3'UTR	NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B	303	Pro-rich.					integral component of membrane (GO:0016021)											TCTGGGCTTCCCGGCCAGGCT	0.642																																																	0								ENSG00000184497						58.0	70.0	66.0					13																	114514803		2203	4300	6503	TMEM255B	SO:0001583	missense	0			-	HGNC	BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.908C>T	13.37:g.114514803C>T	ENSP00000364502:p.Pro303Leu	Somatic	0	159	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	56	33.33		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P303L	ENST00000375353.3	37	c.908	CCDS45071.1	13	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958626	0.34565	.	.	ENSG00000184497	ENST00000375353	T	0.49139	0.79	4.72	2.82	0.32997	.	.	.	.	.	T	0.47637	0.1456	L	0.58101	1.795	0.09310	N	1	P	0.41848	0.763	B	0.42422	0.387	T	0.35847	-0.9772	9	0.51188	T	0.08	-4.932	11.8754	0.52544	0.3156:0.6844:0.0:0.0	.	303	Q8WV15	FA70B_HUMAN	L	303	ENSP00000364502:P303L	ENSP00000364502:P303L	P	+	2	0	FAM70B	113599140	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.665000	0.25083	0.944000	0.37579	0.591000	0.81541	CCC	-	NULL		0.642	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM255B	protein_coding	OTTHUMT00000045953.4	C	NM_182614	-		114514803	+1	no_errors	ENST00000375353	ensembl	human	known	74_37	missense	SNP	0.023	T
PHC1	1911	genome.wustl.edu	37	12	9072388	9072388	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:9072388C>T	ENST00000543824.1	+	4	483	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	PHC1_ENST00000544916.1_Nonsense_Mutation_p.Q51*|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000433083.2_Intron			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	51					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CAATGCAGCTCAGTATTTCCA	0.532																																																	0								ENSG00000111752						52.0	50.0	51.0					12																	9072388		2203	4299	6502	PHC1	SO:0001587	stop_gained	0			-	HGNC	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.151C>T	12.37:g.9072388C>T	ENSP00000440674:p.Gln51*	Somatic	0	24	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	14	33.33	D3DUV4|Q8WVM3|Q9BU63	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.Q51*	ENST00000543824.1	37	c.151	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.351622	0.95830	.	.	ENSG00000111752	ENST00000538657;ENST00000543824;ENST00000251757;ENST00000544916;ENST00000544539;ENST00000539063;ENST00000541181	.	.	.	5.69	5.69	0.88448	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.4622	19.3996	0.94623	0.0:1.0:0.0:0.0	.	.	.	.	X	51	.	ENSP00000251757:Q51X	Q	+	1	0	PHC1	8963655	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.419000	0.80179	2.676000	0.91093	0.655000	0.94253	CAG	-	NULL		0.532	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	protein_coding	OTTHUMT00000399115.1	C	NM_004426	-		9072388	+1	no_errors	ENST00000543824	ensembl	human	known	74_37	nonsense	SNP	1.000	T
TCTN2	79867	genome.wustl.edu	37	12	124163786	124163786	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:124163786C>T	ENST00000303372.5	+	5	642	c.514C>T	c.(514-516)Cct>Tct	p.P172S	TCTN2_ENST00000426174.2_Missense_Mutation_p.P171S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	172	Cys-rich.				cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TGGCCCTTGTCCTTGTAATTT	0.443																																																	0								ENSG00000168778						243.0	213.0	224.0					12																	124163786		2203	4300	6503	TCTN2	SO:0001583	missense	0			-	HGNC	AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.514C>T	12.37:g.124163786C>T	ENSP00000304941:p.Pro172Ser	Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1619	p.P172S	ENST00000303372.5	37	c.514	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432003	0.62844	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.81908	-1.55;-1.55	5.05	5.05	0.67936	Domain of unknown function DUF1619 (1);	0.000000	0.64402	D	0.000001	D	0.84079	0.5393	M	0.78916	2.43	0.54753	D	0.999986	P;P	0.35192	0.489;0.489	B;B	0.38428	0.273;0.273	T	0.81920	-0.0712	10	0.15499	T	0.54	-6.0009	18.4634	0.90747	0.0:1.0:0.0:0.0	.	171;172	A8K7Y8;Q96GX1	.;TECT2_HUMAN	S	171;172	ENSP00000395171:P171S;ENSP00000304941:P172S	ENSP00000304941:P172S	P	+	1	0	TCTN2	122729739	1.000000	0.71417	0.996000	0.52242	0.987000	0.75469	6.664000	0.74437	2.343000	0.79666	0.416000	0.27883	CCT	-	pfam_DUF1619		0.443	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	protein_coding	OTTHUMT00000400652.1	C	NM_024809	-		124163786	+1	no_errors	ENST00000303372	ensembl	human	known	74_37	missense	SNP	1.000	T
ATF7IP2	80063	genome.wustl.edu	37	16	10527500	10527500	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:10527500G>A	ENST00000396560.2	+	4	1181	c.954G>A	c.(952-954)ctG>ctA	p.L318L	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000324570.5_Silent_p.L318L|ATF7IP2_ENST00000356427.2_Silent_p.L318L|ATF7IP2_ENST00000396559.1_Silent_p.L318L	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	318					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CAGCATTCCTGGAACAGGTAA	0.338																																																	0								ENSG00000166669						53.0	55.0	54.0					16																	10527500		2197	4299	6496	ATF7IP2	SO:0001819	synonymous_variant	0			-	HGNC	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.954G>A	16.37:g.10527500G>A		Somatic	0	82	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	33	28.26	B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Fibronectin_type3	p.L318	ENST00000396560.2	37	c.954	CCDS10540.1	16																																																																																			-	NULL		0.338	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF7IP2	protein_coding	OTTHUMT00000251961.1	G	NM_024997	-		10527500	+1	no_errors	ENST00000356427	ensembl	human	known	74_37	silent	SNP	0.994	A
RAP1GAP2	23108	genome.wustl.edu	37	17	2908721	2908721	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:2908721C>T	ENST00000254695.8	+	15	1349	c.1259C>T	c.(1258-1260)cCc>cTc	p.P420L	RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.P420L|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.P405L|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.P401L	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	420	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				negative regulation of neuron projection development (GO:0010977)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|nuclear membrane (GO:0031965)	Rap GTPase activator activity (GO:0046582)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCCAGTCCCCCCGTTTTCCAG	0.562																																																	0								ENSG00000132359						181.0	183.0	182.0					17																	2908721		2003	4193	6196	RAP1GAP2	SO:0001583	missense	0			-	HGNC	AB028962	CCDS45573.1, CCDS45574.1	17p13.3	2009-09-14	2009-09-14	2009-09-14		ENSG00000132359			29176	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 4"", ""GTPase activating Rap/RanGAP domain-like 4"""	GARNL4		15632203	Standard	NM_015085		Approved	KIAA1039	uc010ckd.3	Q684P5		ENST00000254695.8:c.1259C>T	17.37:g.2908721C>T	ENSP00000254695:p.Pro420Leu	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	31	27.91	B2RTY5|Q684P4|Q6AI00|Q6ZVF0|Q9UPW2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	p.P420L	ENST00000254695.8	37	c.1259	CCDS45573.1	17	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368553	0.82463	.	.	ENSG00000132359	ENST00000254695;ENST00000366401;ENST00000540393;ENST00000542807	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	4.98	4.98	0.66077	Rap/ran-GAP (2);	0.153676	0.64402	D	0.000012	D	0.95004	0.8383	M	0.77616	2.38	0.80722	D	1	P;P	0.45283	0.825;0.855	B;P	0.46026	0.389;0.501	D	0.94600	0.7795	10	0.40728	T	0.16	-26.1895	16.9918	0.86356	0.0:1.0:0.0:0.0	.	405;420	Q684P5-2;Q684P5	.;RPGP2_HUMAN	L	420;405;401;420	ENSP00000254695:P420L;ENSP00000389824:P405L;ENSP00000439688:P401L;ENSP00000444890:P420L	ENSP00000254695:P420L	P	+	2	0	RAP1GAP2	2855471	0.990000	0.36364	1.000000	0.80357	0.869000	0.49853	5.651000	0.67951	2.589000	0.87451	0.561000	0.74099	CCC	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom		0.562	RAP1GAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAP1GAP2	protein_coding	OTTHUMT00000438208.2	C		-		2908721	+1	no_errors	ENST00000254695	ensembl	human	known	74_37	missense	SNP	1.000	T
PXDN	7837	genome.wustl.edu	37	2	1658278	1658278	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:1658278G>A	ENST00000252804.4	-	15	1890	c.1840C>T	c.(1840-1842)Cct>Tct	p.P614S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	614					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGACGTCAGGAACTAGGAAA	0.413																																																	0								ENSG00000130508						75.0	71.0	72.0					2																	1658278		1930	4126	6056	PXDN	SO:0001583	missense	0			-	HGNC	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.1840C>T	2.37:g.1658278G>A	ENSP00000252804:p.Pro614Ser	Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.P614S	ENST00000252804.4	37	c.1840	CCDS46221.1	2	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433908	0.25813	.	.	ENSG00000130508	ENST00000252804	T	0.79940	-1.32	5.4	5.4	0.78164	.	0.055312	0.64402	D	0.000001	T	0.69620	0.3131	N	0.19112	0.55	0.54753	D	0.99998	B;B	0.20550	0.046;0.011	B;B	0.19946	0.027;0.016	T	0.64381	-0.6421	10	0.13108	T	0.6	-21.6144	19.2199	0.93791	0.0:0.0:1.0:0.0	.	614;614	Q92626-2;Q92626	.;PXDN_HUMAN	S	614	ENSP00000252804:P614S	ENSP00000252804:P614S	P	-	1	0	PXDN	1637285	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	6.142000	0.71750	2.555000	0.86185	0.478000	0.44815	CCT	-	NULL		0.413	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	protein_coding	OTTHUMT00000322505.1	G	XM_056455	-		1658278	-1	no_errors	ENST00000252804	ensembl	human	known	74_37	missense	SNP	1.000	A
PNPT1	87178	genome.wustl.edu	37	2	55887311	55887311	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:55887311T>C	ENST00000447944.2	-	15	1351	c.1265A>G	c.(1264-1266)aAt>aGt	p.N422S		NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1	422					cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGCATGAAATTTTTATCTTT	0.284																																																	0								ENSG00000138035						16.0	17.0	17.0					2																	55887311		2157	4260	6417	PNPT1	SO:0001583	missense	0			-	HGNC	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1265A>G	2.37:g.55887311T>C	ENSP00000400646:p.Asn422Ser	Somatic	1	191	0.52		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	71	26.04	Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase	p.N422S	ENST00000447944.2	37	c.1265	CCDS1856.1	2	.	.	.	.	.	.	.	.	.	.	T	17.86	3.493077	0.64186	.	.	ENSG00000138035	ENST00000447944	D	0.81996	-1.56	5.62	5.62	0.85841	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	L	0.45581	1.43	0.58432	D	0.999998	P	0.39003	0.654	P	0.51055	0.657	D	0.84928	0.0858	10	0.44086	T	0.13	-17.0984	15.2977	0.73922	0.0:0.0:0.0:1.0	.	422	Q8TCS8	PNPT1_HUMAN	S	422	ENSP00000400646:N422S	ENSP00000386075:N422S	N	-	2	0	PNPT1	55740815	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.885000	0.69736	2.266000	0.75297	0.533000	0.62120	AAT	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_PNPase,tigrfam_PNPase		0.284	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPT1	protein_coding	OTTHUMT00000251481.2	T	NM_033109	-		55887311	-1	no_errors	ENST00000415374	ensembl	human	known	74_37	missense	SNP	1.000	C
AP3B2	8120	genome.wustl.edu	37	15	83345378	83345378	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:83345378G>A	ENST00000261722.3	-	14	1707	c.1500C>T	c.(1498-1500)gcC>gcT	p.A500A	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.A468A|AP3B2_ENST00000535359.1_Silent_p.A500A	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	500					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)			TGCTGGCTCGGGCCATGGGCA	0.532																																																	0								ENSG00000103723						52.0	50.0	51.0					15																	83345378		1935	4142	6077	AP3B2	SO:0001819	synonymous_variant	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.1500C>T	15.37:g.83345378G>A		Somatic	0	51	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	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.A500	ENST00000261722.3	37	c.1500	CCDS45331.1	15																																																																																			-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta		0.532	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	protein_coding	OTTHUMT00000397463.1	G		-		83345378	-1	no_errors	ENST00000261722	ensembl	human	known	74_37	silent	SNP	0.977	A
LOC729218	729218	genome.wustl.edu	37	4	119554750	119554750	+	lincRNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:119554750C>T	ENST00000567913.2	+	0	4261																											AGGCCCAAGTCGTTCTCAAGT	0.682																																																	0								ENSG00000260404																																			RP11-384K6.6			0			-	Clone_based_vega_gene																													4.37:g.119554750C>T		Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	20	20.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000567913.2	37	NULL		4																																																																																			-	-		0.682	RP11-384K6.6-001	KNOWN	basic	lincRNA	LOC101929676	lincRNA	OTTHUMT00000364170.2	C		-		119554750	+1	no_errors	ENST00000567913	ensembl	human	known	74_37	rna	SNP	0.058	T
TCF7L1	83439	genome.wustl.edu	37	2	85510652	85510652	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:85510652C>T	ENST00000282111.3	+	4	751	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	159	Pro-rich.				anterior/posterior axis specification, embryo (GO:0008595)|axial mesoderm morphogenesis (GO:0048319)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|chromatin organization (GO:0006325)|generation of neurons (GO:0048699)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						CTCGATGTCCCCTCCAGCGCC	0.507																																																	0								ENSG00000152284						259.0	225.0	237.0					2																	85510652		2203	4300	6503	TCF7L1	SO:0001583	missense	0			-	HGNC	X62870	CCDS1971.1	2p11.2	2008-02-05			ENSG00000152284	ENSG00000152284			11640	protein-coding gene	gene with protein product		604652		TCF3		1741298, 11085512	Standard	NM_031283		Approved		uc002soy.3	Q9HCS4	OTTHUMG00000130026	ENST00000282111.3:c.476C>T	2.37:g.85510652C>T	ENSP00000282111:p.Pro159Leu	Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	28	20.00	Q53R97|Q6PD70|Q9NP00	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CTNNB1-bd_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.P159L	ENST00000282111.3	37	c.476	CCDS1971.1	2	.	.	.	.	.	.	.	.	.	.	C	16.60	3.167965	0.57476	.	.	ENSG00000152284	ENST00000282111;ENST00000442813	D	0.98602	-5.02	5.3	5.3	0.74995	CTNNB1 binding, N-teminal (1);	0.000000	0.85682	D	0.000000	D	0.98409	0.9471	L	0.53249	1.67	0.51482	D	0.999922	D	0.89917	1.0	D	0.91635	0.999	D	0.99246	1.0886	10	0.72032	D	0.01	.	14.4663	0.67485	0.0:1.0:0.0:0.0	.	159	Q9HCS4	TF7L1_HUMAN	L	159;9	ENSP00000282111:P159L	ENSP00000282111:P159L	P	+	2	0	TCF7L1	85364163	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.083000	0.57643	2.472000	0.83506	0.655000	0.94253	CCC	-	pfam_CTNNB1-bd_N		0.507	TCF7L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF7L1	protein_coding	OTTHUMT00000252301.2	C	NM_031283	-		85510652	+1	no_errors	ENST00000282111	ensembl	human	known	74_37	missense	SNP	1.000	T
NF2	4771	genome.wustl.edu	37	22	30032850	30032850	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:30032850C>T	ENST00000338641.4	+	2	666	c.225C>T	c.(223-225)ctC>ctT	p.L75L	NF2_ENST00000361676.4_Intron|NF2_ENST00000397789.3_Silent_p.L75L|NF2_ENST00000403435.1_Silent_p.L75L|NF2_ENST00000361452.4_Silent_p.L75L|NF2_ENST00000353887.4_Intron|NF2_ENST00000361166.4_Silent_p.L75L|NF2_ENST00000347330.5_Intron|NF2_ENST00000334961.7_Intron|NF2_ENST00000413209.2_Silent_p.L75L|NF2_ENST00000403999.3_Silent_p.L75L	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	75	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.M39_K80del(3)|p.?(3)|p.M77fs*9(2)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TGGCCTGGCTCAAAATGGACA	0.537			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																														yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	8	Unknown(3)|Deletion - In frame(3)|Insertion - Frameshift(2)	soft_tissue(3)|meninges(2)|stomach(1)|large_intestine(1)|lung(1)						ENSG00000186575						109.0	103.0	105.0					22																	30032850		2203	4300	6503	NF2	SO:0001819	synonymous_variant	0	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	-	HGNC	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.225C>T	22.37:g.30032850C>T		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	26	35.00	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,prints_Tropomyosin	p.L75	ENST00000338641.4	37	c.225	CCDS13861.1	22																																																																																			-	pirsf_ERM,pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain		0.537	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NF2	protein_coding	OTTHUMT00000075615.3	C	NM_000268	-		30032850	+1	no_errors	ENST00000338641	ensembl	human	known	74_37	silent	SNP	1.000	T
S100A4	6275	genome.wustl.edu	37	1	153516190	153516190	+	3'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:153516190G>A	ENST00000368716.4	-	0	498				S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000368715.1_3'UTR|S100A4_ENST00000354332.4_3'UTR|S100A4_ENST00000368714.1_3'UTR|S100A5_ENST00000368718.1_5'Flank|S100A5_ENST00000359215.1_5'Flank	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4						epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Trifluoperazine(DB00831)	CTGGCGACAGGGAGGGCCCCA	0.498																																																	0								ENSG00000196154						84.0	92.0	89.0					1																	153516190		2203	4300	6503	S100A4	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BC016300	CCDS1042.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000196154	ENSG00000196154		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10494	protein-coding gene	gene with protein product	"""fibroblast-specific protein-1"""	114210	"""S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"", ""S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)"""	MTS1, CAPL		3155863	Standard	NM_019554		Approved	P9KA, 18A2, PEL98, 42A, FSP1	uc001fbz.3	P26447	OTTHUMG00000013546	ENST00000368716.4:c.*45C>T	1.37:g.153516190G>A		Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	37	13.95	A8K7R8|D3DV46|Q6ICP8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000368716.4	37	NULL	CCDS1042.1	1																																																																																			-	-		0.498	S100A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A4	protein_coding	OTTHUMT00000037714.1	G	NM_002961	-		153516190	-1	no_errors	ENST00000468373	ensembl	human	known	74_37	rna	SNP	0.001	A
RNF111	54778	genome.wustl.edu	37	15	59323147	59323147	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:59323147C>T	ENST00000557998.1	+	2	413	c.126C>T	c.(124-126)ccC>ccT	p.P42P	RNF111_ENST00000434298.1_Silent_p.P42P|RNF111_ENST00000559209.1_Silent_p.P42P|RNF111_ENST00000561186.1_Silent_p.P42P|RNF111_ENST00000348370.4_Silent_p.P42P	NM_001270530.1	NP_001257459.1	Q6ZNA4	RN111_HUMAN	ring finger protein 111	42					gene expression (GO:0010467)|pattern specification process (GO:0007389)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein polyubiquitination (GO:0000209)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|SUMO polymer binding (GO:0032184)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		ATCCAGAGCCCATTGGGGCAG	0.438																																					NSCLC(72;983 1365 10746 34387 47081)												0								ENSG00000157450						68.0	69.0	69.0					15																	59323147		2192	4292	6484	RNF111	SO:0001819	synonymous_variant	0			-	HGNC	AL157474	CCDS10169.1, CCDS58365.1, CCDS58366.1	15q21	2013-01-09			ENSG00000157450	ENSG00000157450		"""RING-type (C3HC4) zinc fingers"""	17384	protein-coding gene	gene with protein product		605840				11298452	Standard	NM_017610		Approved	ARK, Arkadia, FLJ38008, DKFZP761D081	uc002aft.4	Q6ZNA4	OTTHUMG00000132716	ENST00000557998.1:c.126C>T	15.37:g.59323147C>T		Somatic	0	51	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	39	11.36	C9JUS4|H0YN55|Q6P9A4|Q6ZMU2|Q7L428|Q7Z346|Q8N1P9|Q8WUA3|Q9NSR1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P42	ENST00000557998.1	37	c.126	CCDS58366.1	15																																																																																			-	NULL		0.438	RNF111-003	KNOWN	basic|CCDS	protein_coding	RNF111	protein_coding	OTTHUMT00000416012.1	C	NM_017610	-		59323147	+1	no_errors	ENST00000434298	ensembl	human	known	74_37	silent	SNP	1.000	T
ZNF599	148103	genome.wustl.edu	37	19	35251226	35251226	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:35251226A>C	ENST00000329285.8	-	4	853	c.480T>G	c.(478-480)gaT>gaG	p.D160E		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	160					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCAGACTATCATCTGGCTCCA	0.448																																																	0								ENSG00000153896						143.0	141.0	142.0					19																	35251226		2203	4300	6503	ZNF599	SO:0001583	missense	0			-	HGNC	AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.480T>G	19.37:g.35251226A>C	ENSP00000333802:p.Asp160Glu	Somatic	0	112	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	46	22.03	Q569K0|Q5PRG1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D160E	ENST00000329285.8	37	c.480	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	A	0	-2.719723	0.00092	.	.	ENSG00000153896	ENST00000392231;ENST00000329285	T	0.22134	1.97	2.43	1.4	0.22301	.	.	.	.	.	T	0.11239	0.0274	L	0.29908	0.895	0.09310	N	1	B	0.27498	0.18	B	0.19946	0.027	T	0.35773	-0.9775	9	0.09590	T	0.72	.	5.718	0.17970	0.8532:0.0:0.1468:0.0	.	160	Q96NL3	ZN599_HUMAN	E	159;160	ENSP00000333802:D160E	ENSP00000333802:D160E	D	-	3	2	ZNF599	39943066	0.000000	0.05858	0.005000	0.12908	0.109000	0.19521	0.591000	0.23969	0.374000	0.24650	0.402000	0.26972	GAT	-	NULL		0.448	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	protein_coding	OTTHUMT00000460648.2	A	XM_086046	-		35251226	-1	no_errors	ENST00000329285	ensembl	human	known	74_37	missense	SNP	0.001	C
PSEN2	5664	genome.wustl.edu	37	1	227071405	227071405	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:227071405G>A	ENST00000366783.3	+	5	577		c.e5-1		PSEN2_ENST00000391872.2_Splice_Site|PSEN2_ENST00000340188.4_Splice_Site|PSEN2_ENST00000366782.1_Splice_Site|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000422240.2_Splice_Site	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2						amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTTTCCCACAGAGAAGCCAGG	0.577																																																	0								ENSG00000143801						39.0	37.0	38.0					1																	227071405		2203	4300	6503	PSEN2	SO:0001630	splice_region_variant	0			-	HGNC	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.142-1G>A	1.37:g.227071405G>A		Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	31.58	A8K8D4|B1AP21|Q96P32	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e3-1	ENST00000366783.3	37	c.241-1	CCDS1556.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072923	0.76415	.	.	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000495488;ENST00000422240;ENST00000366782;ENST00000391872	.	.	.	4.95	4.95	0.65309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0413	0.64676	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PSEN2	225138028	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.926000	0.40084	2.462000	0.83206	0.650000	0.86243	.	-	-		0.577	PSEN2-001	KNOWN	basic|CCDS	protein_coding	PSEN2	protein_coding	OTTHUMT00000091539.1	G	NM_000447	-	Intron	227071405	+1	no_errors	ENST00000391872	ensembl	human	known	74_37	splice_site	SNP	1.000	A
TOR1A	1861	genome.wustl.edu	37	9	132576327	132576327	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:132576327G>A	ENST00000351698.4	-	5	971	c.923C>T	c.(922-924)cCc>cTc	p.P308L		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	308	Interaction with KLC1.				ATP catabolic process (GO:0006200)|cell adhesion (GO:0007155)|chaperone mediated protein folding requiring cofactor (GO:0051085)|chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|ER-associated misfolded protein catabolic process (GO:0071712)|intermediate filament cytoskeleton organization (GO:0045104)|neuron projection development (GO:0031175)|nuclear envelope organization (GO:0006998)|nuclear membrane organization (GO:0071763)|organelle organization (GO:0006996)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|protein deneddylation (GO:0000338)|protein homooligomerization (GO:0051260)|protein localization to nucleus (GO:0034504)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of protein localization to cell surface (GO:2000008)|response to oxidative stress (GO:0006979)|synaptic vesicle transport (GO:0048489)|wound healing, spreading of cells (GO:0044319)	cell junction (GO:0030054)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cytoskeletal protein binding (GO:0008092)|kinesin binding (GO:0019894)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				CTCCTCTTTGGGGAAAAATGT	0.428																																																	0								ENSG00000136827						179.0	171.0	174.0					9																	132576327		2203	4300	6503	TOR1A	SO:0001583	missense	0			-	HGNC	AF007871	CCDS6930.1	9q32-q34	2008-07-21	2004-11-24	2004-11-26	ENSG00000136827	ENSG00000136827			3098	protein-coding gene	gene with protein product		605204	"""dystonia 1, torsion (autosomal dominant; torsin A)"""	DYT1		10644435	Standard	NM_000113		Approved	DQ2	uc004byl.3	O14656	OTTHUMG00000020794	ENST00000351698.4:c.923C>T	9.37:g.132576327G>A	ENSP00000345719:p.Pro308Leu	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	28	24.32	B2RB58|Q53Y64|Q96CA0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Torsin,superfamily_P-loop_NTPase,pirsf_Torsin_subgr	p.P308L	ENST00000351698.4	37	c.923	CCDS6930.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.113853	0.94339	.	.	ENSG00000136827	ENST00000427355;ENST00000351698	T	0.65732	-0.17	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88930	0.3372	10	0.87932	D	0	-16.9123	17.8532	0.88754	0.0:0.0:1.0:0.0	.	308	O14656	TOR1A_HUMAN	L	277;308	ENSP00000345719:P308L	ENSP00000345719:P308L	P	-	2	0	TOR1A	131616148	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.439000	0.82584	0.561000	0.74099	CCC	-	superfamily_P-loop_NTPase,pirsf_Torsin_subgr		0.428	TOR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOR1A	protein_coding	OTTHUMT00000054611.1	G	NM_000113	-		132576327	-1	no_errors	ENST00000351698	ensembl	human	known	74_37	missense	SNP	1.000	A
HERC2	8924	genome.wustl.edu	37	15	28474893	28474893	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:28474893C>T	ENST00000261609.7	-	32	5018	c.4910G>A	c.(4909-4911)aGt>aAt	p.S1637N		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAATTGTACTGAGGAGTGG	0.428																																																	0								ENSG00000128731						96.0	108.0	104.0					15																	28474893		2201	4296	6497	HERC2	SO:0001583	missense	0			-	HGNC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.4910G>A	15.37:g.28474893C>T	ENSP00000261609:p.Ser1637Asn	Somatic	0	152	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	78	23.81		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens	p.S1637N	ENST00000261609.7	37	c.4910	CCDS10021.1	15	.	.	.	.	.	.	.	.	.	.	C	5.593	0.294240	0.10567	.	.	ENSG00000128731	ENST00000261609	T	0.37235	1.21	4.24	3.31	0.37934	.	0.488214	0.23708	N	0.045344	T	0.15435	0.0372	N	0.08118	0	0.25696	N	0.985634	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	10	0.08381	T	0.77	.	8.5961	0.33716	0.0:0.7903:0.0:0.2097	.	1637	O95714	HERC2_HUMAN	N	1637	ENSP00000261609:S1637N	ENSP00000261609:S1637N	S	-	2	0	HERC2	26148488	1.000000	0.71417	0.926000	0.36857	0.859000	0.49053	1.171000	0.31896	0.973000	0.38340	0.555000	0.69702	AGT	-	NULL		0.428	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC2	protein_coding	OTTHUMT00000251358.2	C	NM_004667	-		28474893	-1	no_errors	ENST00000261609	ensembl	human	known	74_37	missense	SNP	0.999	T
CCDC130	81576	genome.wustl.edu	37	19	13875884	13875884	+	IGR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:13875884C>T	ENST00000586600.1	+	0	1922				MRI1_ENST00000319545.8_Missense_Mutation_p.A111V|MRI1_ENST00000040663.6_Missense_Mutation_p.A111V			P13994	CC130_HUMAN	coiled-coil domain containing 130						response to virus (GO:0009615)					endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			GCCCGGGAGGCCGAACGGGAG	0.642																																																	0								ENSG00000037757						12.0	13.0	13.0					19																	13875884		2103	4067	6170	MRI1	SO:0001628	intergenic_variant	0			-	HGNC	AF250306	CCDS12296.1	19p13.13	2008-02-05				ENSG00000104957			28118	protein-coding gene	gene with protein product						3203696	Standard	NM_030818		Approved	MGC10471	uc002mxc.1	P13994			19.37:g.13875884C>T		Somatic	0	88	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	Q9BQ72	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d	p.A111V	ENST00000586600.1	37	c.332	CCDS12296.1	19	.	.	.	.	.	.	.	.	.	.	C	13.02	2.112562	0.37242	.	.	ENSG00000037757	ENST00000040663;ENST00000319545	D;D	0.92752	-3.1;-3.1	5.29	4.26	0.50523	.	0.244803	0.41823	D	0.000819	D	0.88325	0.6406	L	0.52364	1.645	0.32371	N	0.555791	B;B	0.31705	0.336;0.037	B;B	0.32090	0.075;0.14	D	0.87078	0.2164	10	0.27082	T	0.32	-35.7025	11.6776	0.51438	0.0:0.9134:0.0:0.0866	.	111;111	Q9BV20-2;Q9BV20	.;MTNA_HUMAN	V	111	ENSP00000040663:A111V;ENSP00000314871:A111V	ENSP00000040663:A111V	A	+	2	0	MRI1	13736884	1.000000	0.71417	0.856000	0.33681	0.007000	0.05969	2.671000	0.46842	1.241000	0.43820	-0.148000	0.13756	GCC	-	pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d		0.642	CCDC130-001	KNOWN	alternative_5_UTR|upstream_uORF|basic|appris_principal|CCDS	protein_coding	MRI1	protein_coding	OTTHUMT00000453216.2	C	NM_030818	-		13875884	+1	no_errors	ENST00000040663	ensembl	human	known	74_37	missense	SNP	0.991	T
MKRN3	7681	genome.wustl.edu	37	15	23810931	23810931	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:23810931T>C	ENST00000314520.3	+	1	478	c.2T>C	c.(1-3)aTg>aCg	p.M1T	MKRN3_ENST00000564592.1_Start_Codon_SNP_p.M1T|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Start_Codon_SNP_p.M1T	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	1					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		AAAGCAGCCATGGAAGAGCCT	0.642																																																	0								ENSG00000179455						13.0	18.0	16.0					15																	23810931		2193	4291	6484	MKRN3	SO:0001582	initiator_codon_variant	0			-	HGNC	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.2T>C	15.37:g.23810931T>C	ENSP00000313881:p.Met1Thr	Somatic	0	95	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	36	28.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING	p.M1T	ENST00000314520.3	37	c.2	CCDS10013.1	15	.	.	.	.	.	.	.	.	.	.	t	4.665	0.123592	0.08931	.	.	ENSG00000179455	ENST00000314520	T	0.34472	1.36	3.36	3.36	0.38483	.	.	.	.	.	T	0.55257	0.1909	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.78314	0.991;0.981	T	0.58515	-0.7623	8	0.87932	D	0	.	8.4493	0.32860	0.0:0.0:0.0:1.0	.	1;1	Q6NSB6;Q13064	.;MKRN3_HUMAN	T	1	ENSP00000313881:M1T	ENSP00000313881:M1T	M	+	2	0	MKRN3	21362024	1.000000	0.71417	0.978000	0.43139	0.194000	0.23727	1.842000	0.39250	1.761000	0.52028	0.460000	0.39030	ATG	-	NULL		0.642	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKRN3	protein_coding	OTTHUMT00000251225.1	T	NM_005664	-	Missense_Mutation	23810931	+1	no_errors	ENST00000314520	ensembl	human	known	74_37	missense	SNP	0.983	C
NHS	4810	genome.wustl.edu	37	X	17739680	17739680	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:17739680C>T	ENST00000380060.3	+	4	1310	c.972C>T	c.(970-972)ctC>ctT	p.L324L	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.L168L	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	345					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CACTACCTCTCCCGACGCCAG	0.458																																																	0								ENSG00000188158						230.0	183.0	199.0					X																	17739680		2203	4300	6503	NHS	SO:0001819	synonymous_variant	0			-	HGNC		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.972C>T	X.37:g.17739680C>T		Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	12	58.62	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L324	ENST00000380060.3	37	c.972	CCDS14181.1	X																																																																																			-	NULL		0.458	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	protein_coding	OTTHUMT00000059120.1	C	NM_198270	-		17739680	+1	no_errors	ENST00000380060	ensembl	human	known	74_37	silent	SNP	1.000	T
KCNU1	157855	genome.wustl.edu	37	8	36644847	36644847	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:36644847C>T	ENST00000399881.3	+	2	256	c.219C>T	c.(217-219)atC>atT	p.I73I		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	73					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CAGGTACCATCGCTAGGAGCC	0.433																																																	0								ENSG00000215262						82.0	78.0	80.0					8																	36644847		1931	4119	6050	KCNU1	SO:0001819	synonymous_variant	0			-	HGNC	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.219C>T	8.37:g.36644847C>T		Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	34	24.44		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.I73	ENST00000399881.3	37	c.219	CCDS55220.1	8																																																																																			-	NULL		0.433	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	protein_coding	OTTHUMT00000376631.1	C	NM_001031836	-		36644847	+1	no_errors	ENST00000399881	ensembl	human	known	74_37	silent	SNP	0.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110474001	110474001	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:110474001G>A	ENST00000378402.5	+	48	7351	c.7247G>A	c.(7246-7248)gGa>gAa	p.G2416E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2416					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)			TGTTTTGAAGGAGAATTTGCT	0.353										HNSCC(38;0.096)																																							0								ENSG00000205038						50.0	49.0	49.0					8																	110474001		1909	4136	6045	PKHD1L1	SO:0001630	splice_region_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.7247-1G>A	8.37:g.110474001G>A		Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q567P2|Q9UF27	Missense_Mutation	SNP	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.G2416E	ENST00000378402.5	37	c.7247	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561970	0.86335	.	.	ENSG00000205038	ENST00000378402	D	0.86297	-2.1	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.92655	0.7666	M	0.82823	2.61	0.53005	D	0.999961	D	0.62365	0.991	P	0.58130	0.833	D	0.92750	0.6215	9	.	.	.	.	17.2064	0.86920	0.0:0.0:1.0:0.0	.	2416	Q86WI1	PKHL1_HUMAN	E	2416	ENSP00000367655:G2416E	.	G	+	2	0	PKHD1L1	110543177	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	8.378000	0.90144	2.664000	0.90586	0.650000	0.86243	GGA	-	NULL		0.353	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531	-	Missense_Mutation	110474001	+1	no_errors	ENST00000378402	ensembl	human	known	74_37	missense	SNP	1.000	A
COL4A4	1286	genome.wustl.edu	37	2	227954652	227954652	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:227954652T>C	ENST00000396625.3	-	21	1598	c.1391A>G	c.(1390-1392)aAc>aGc	p.N464S	COL4A4_ENST00000329662.7_Missense_Mutation_p.N464S	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	464	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGTCCGGGGTTCCCAACACT	0.448																																																	0								ENSG00000081052						97.0	88.0	91.0					2																	227954652		1864	4091	5955	COL4A4	SO:0001583	missense	0			-	HGNC		CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.1391A>G	2.37:g.227954652T>C	ENSP00000379866:p.Asn464Ser	Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	17	29.17	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.N464S	ENST00000396625.3	37	c.1391	CCDS42828.1	2	.	.	.	.	.	.	.	.	.	.	T	8.745	0.919783	0.17982	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.89810	-2.57;-2.51	5.82	-8.81	0.00813	.	.	.	.	.	T	0.63931	0.2553	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.58142	-0.7688	9	0.12103	T	0.63	.	3.7231	0.08465	0.1023:0.3232:0.3872:0.1873	.	464	P53420	CO4A4_HUMAN	S	464	ENSP00000379866:N464S;ENSP00000328553:N464S	ENSP00000328553:N464S	N	-	2	0	COL4A4	227662896	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.917000	0.04025	-1.237000	0.02539	0.383000	0.25322	AAC	-	NULL		0.448	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL4A4	protein_coding	OTTHUMT00000313770.1	T	NM_000092	-		227954652	-1	no_errors	ENST00000396625	ensembl	human	known	74_37	missense	SNP	0.000	C
KIF7	374654	genome.wustl.edu	37	15	90188623	90188623	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:90188623C>T	ENST00000394412.3	-	9	2058	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	661	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGGCCCTTCCTCTCTGGCAG	0.637																																																	0								ENSG00000166813						95.0	78.0	84.0					15																	90188623		2200	4299	6499	KIF7	SO:0001583	missense	0			-	HGNC	AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1982G>A	15.37:g.90188623C>T	ENSP00000377934:p.Arg661Lys	Somatic	1	109	0.91		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	49	18.33	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R661K	ENST00000394412.3	37	c.1982	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	c	6.098	0.386384	0.11524	.	.	ENSG00000166813	ENST00000394412	T	0.69561	-0.41	4.38	1.04	0.20106	.	0.954097	0.08809	N	0.890553	T	0.51839	0.1698	L	0.47716	1.5	0.09310	N	1	B;B	0.23806	0.091;0.067	B;B	0.24541	0.054;0.012	T	0.39210	-0.9625	10	0.07175	T	0.84	.	5.5471	0.17069	0.0:0.4844:0.4009:0.1147	.	148;661	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	K	661	ENSP00000377934:R661K	ENSP00000377934:R661K	R	-	2	0	KIF7	87989627	0.002000	0.14202	0.765000	0.31456	0.067000	0.16453	-0.245000	0.08890	0.910000	0.36722	0.454000	0.30748	AGG	-	NULL		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	protein_coding	OTTHUMT00000347782.1	C	NM_198525	-		90188623	-1	no_errors	ENST00000394412	ensembl	human	known	74_37	missense	SNP	0.039	T
SPAG6	9576	genome.wustl.edu	37	10	22680841	22680841	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:22680841C>T	ENST00000376624.3	+	8	1331	c.1189C>T	c.(1189-1191)Caa>Taa	p.Q397*	SPAG6_ENST00000490361.1_3'UTR|SPAG6_ENST00000538630.1_Nonsense_Mutation_p.Q372*|RP11-301N24.3_ENST00000422675.1_RNA|SPAG6_ENST00000376601.1_Nonsense_Mutation_p.Q158*|SPAG6_ENST00000376603.2_Nonsense_Mutation_p.Q473*|SPAG6_ENST00000313311.6_Nonsense_Mutation_p.Q397*	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	397					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						TGAGGATCTCCAAGTAAAAGT	0.358																																																	0								ENSG00000077327						65.0	63.0	64.0					10																	22680841		2203	4300	6503	SPAG6	SO:0001587	stop_gained	0			-	HGNC	AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.1189C>T	10.37:g.22680841C>T	ENSP00000365811:p.Gln397*	Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	26	23.53	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.Q473*	ENST00000376624.3	37	c.1417	CCDS7139.1	10	.	.	.	.	.	.	.	.	.	.	C	39	7.314050	0.98207	.	.	ENSG00000077327	ENST00000376624;ENST00000376603;ENST00000376601;ENST00000538630;ENST00000456231;ENST00000313311	.	.	.	5.56	5.56	0.83823	.	0.050060	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.2792	15.8488	0.78910	0.1361:0.8639:0.0:0.0	.	.	.	.	X	397;473;158;372;158;397	.	ENSP00000323599:Q397X	Q	+	1	0	SPAG6	22720847	1.000000	0.71417	0.869000	0.34112	0.982000	0.71751	4.542000	0.60677	2.604000	0.88044	0.585000	0.79938	CAA	-	superfamily_ARM-type_fold		0.358	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	protein_coding	OTTHUMT00000047187.1	C		-		22680841	+1	no_errors	ENST00000376603	ensembl	human	known	74_37	nonsense	SNP	1.000	T
PCDHGC5	56097	genome.wustl.edu	37	5	140869978	140869978	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140869978C>T	ENST00000252087.1	+	1	1171	c.1171C>T	c.(1171-1173)Ccg>Tcg	p.P391S	PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATATCTCTCCGGACCTGCC	0.532																																																	0								ENSG00000240764						122.0	125.0	124.0					5																	140869978		2203	4300	6503	PCDHGC5	SO:0001583	missense	0			-	HGNC	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1171C>T	5.37:g.140869978C>T	ENSP00000252087:p.Pro391Ser	Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18	Q9Y5C2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P391S	ENST00000252087.1	37	c.1171	CCDS4263.1	5	.	.	.	.	.	.	.	.	.	.	C	3.679	-0.065918	0.07273	.	.	ENSG00000240764	ENST00000252087	T	0.01613	4.73	5.56	4.64	0.57946	Cadherin (4);Cadherin-like (1);	0.111452	0.41001	N	0.000961	T	0.01489	0.0048	N	0.21508	0.67	0.24488	N	0.994313	P;B	0.45044	0.849;0.437	B;B	0.40506	0.331;0.194	T	0.50947	-0.8767	10	0.12103	T	0.63	.	9.7506	0.40473	0.1368:0.7852:0.0:0.078	.	391;391	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	S	391	ENSP00000252087:P391S	ENSP00000252087:P391S	P	+	1	0	PCDHGC5	140850162	0.048000	0.20356	0.786000	0.31890	0.975000	0.68041	2.607000	0.46300	1.471000	0.48121	0.655000	0.94253	CCG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.532	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	protein_coding	OTTHUMT00000251819.1	C	NM_018929	-		140869978	+1	no_errors	ENST00000252087	ensembl	human	known	74_37	missense	SNP	0.533	T
SMG7	9887	genome.wustl.edu	37	1	183519983	183519983	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:183519983C>T	ENST00000347615.2	+	20	3200	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	SMG7_ENST00000508461.1_Silent_p.S1035S|SMG7_ENST00000456731.2_Silent_p.S939S|SMG7_ENST00000367537.3_Silent_p.S1060S|SMG7_ENST00000515829.2_Silent_p.S981S|SMG7_ENST00000507469.1_Silent_p.S1031S	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	1027					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TTCCATTCTCCAATTTTGGAC	0.478																																																	0								ENSG00000116698						113.0	107.0	109.0					1																	183519983		2203	4300	6503	SMG7	SO:0001819	synonymous_variant	0			-	HGNC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.3081C>T	1.37:g.183519983C>T		Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	31	32.61	B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EST1	p.S1031	ENST00000347615.2	37	c.3093	CCDS1355.1	1																																																																																			-	NULL		0.478	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SMG7	protein_coding	OTTHUMT00000085432.1	C	NM_014837	-		183519983	+1	no_errors	ENST00000507469	ensembl	human	known	74_37	silent	SNP	1.000	T
UNC93B1	81622	genome.wustl.edu	37	11	67763181	67763181	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67763181A>G	ENST00000227471.2	-	10	1340	c.1261T>C	c.(1261-1263)Tgg>Cgg	p.W421R	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	422					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)											ACAGGGGCCCAGAAAAAGAGG	0.657																																																	0								ENSG00000110057						7.0	8.0	7.0					11																	67763181		1811	3811	5622	UNC93B1	SO:0001583	missense	0			-	HGNC	AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1261T>C	11.37:g.67763181A>G	ENSP00000227471:p.Trp421Arg	Somatic	0	266	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	142	20.22	O95764|Q569H6|Q710D4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.W421R	ENST00000227471.2	37	c.1261		11	.	.	.	.	.	.	.	.	.	.	.	16.21	3.059516	0.55325	.	.	ENSG00000110057	ENST00000227471	T	0.16597	2.33	5.44	5.44	0.79542	.	0.125939	0.64402	D	0.000014	T	0.25938	0.0632	L	0.32530	0.975	0.58432	D	0.99999	D	0.67145	0.996	P	0.57548	0.823	T	0.01033	-1.1474	10	0.48119	T	0.1	-16.17	14.3284	0.66534	1.0:0.0:0.0:0.0	.	422	Q9H1C4	UN93B_HUMAN	R	421	ENSP00000227471:W421R	ENSP00000227471:W421R	W	-	1	0	UNC93B1	67519757	1.000000	0.71417	1.000000	0.80357	0.175000	0.22909	6.776000	0.75023	2.074000	0.62210	0.454000	0.30748	TGG	-	NULL		0.657	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	protein_coding		A	NM_030930	-		67763181	-1	no_errors	ENST00000227471	ensembl	human	known	74_37	missense	SNP	1.000	G
CCDC178	374864	genome.wustl.edu	37	18	30926242	30926242	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:30926242C>T	ENST00000383096.3	-	9	773	c.591G>A	c.(589-591)atG>atA	p.M197I	CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.M197I|CCDC178_ENST00000403303.1_Missense_Mutation_p.M197I|CCDC178_ENST00000406524.2_Missense_Mutation_p.M197I|CCDC178_ENST00000402325.1_Missense_Mutation_p.M197I|CCDC178_ENST00000300227.8_Missense_Mutation_p.M197I|CCDC178_ENST00000583930.1_Missense_Mutation_p.M197I			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	197																	TCATGTTAATCATATTCTTTC	0.368																																																	0								ENSG00000166960						118.0	117.0	117.0					18																	30926242		2203	4300	6503	CCDC178	SO:0001583	missense	0			-	HGNC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.591G>A	18.37:g.30926242C>T	ENSP00000372576:p.Met197Ile	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.M197I	ENST00000383096.3	37	c.591	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	1.670	-0.509113	0.04231	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.42900	2.56;2.56;2.56;2.55;2.56;0.96	5.59	-1.42	0.08913	.	.	.	.	.	T	0.27765	0.0683	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.27765	0.031;0.188;0.188;0.188	B;B;B;B	0.24974	0.023;0.057;0.057;0.057	T	0.25257	-1.0137	9	0.52906	T	0.07	0.9812	4.9454	0.13987	0.5694:0.2184:0.0:0.2122	.	197;197;197;197	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	I	197	ENSP00000385591:M197I;ENSP00000372576:M197I;ENSP00000300227:M197I;ENSP00000385867:M197I;ENSP00000385234:M197I;ENSP00000382130:M197I	ENSP00000300227:M197I	M	-	3	0	C18orf34	29180240	0.001000	0.12720	0.000000	0.03702	0.007000	0.05969	-0.325000	0.07976	0.021000	0.15133	0.557000	0.71058	ATG	-	NULL		0.368	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	protein_coding	OTTHUMT00000255373.2	C	NM_198995	-		30926242	-1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	SNP	0.000	T
GRK6	2870	genome.wustl.edu	37	5	176863465	176863465	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:176863465C>T	ENST00000355472.5	+	13	1506	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	GRK6_ENST00000528793.1_Silent_p.P446P|GRK6_ENST00000507633.1_Silent_p.P446P|PRR7-AS1_ENST00000425316.3_RNA|GRK6_ENST00000393576.3_Silent_p.P412P|GRK6_ENST00000355958.5_Silent_p.P446P	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCACCCCCTCTTTAAGA	0.672																																																	0								ENSG00000198055						37.0	39.0	39.0					5																	176863465		2203	4300	6503	GRK6	SO:0001819	synonymous_variant	0			-	HGNC		CCDS34303.1, CCDS43406.1, CCDS47348.1	5q35	2011-01-14	2004-02-04	2004-02-06	ENSG00000198055	ENSG00000198055			4545	protein-coding gene	gene with protein product		600869		GPRK6		8415712	Standard	NM_002082		Approved		uc021yiu.1	P43250	OTTHUMG00000163401	ENST00000355472.5:c.1338C>T	5.37:g.176863465C>T		Somatic	0	112	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	24	50.00	O60541|Q13652	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase	p.P446	ENST00000355472.5	37	c.1338	CCDS34303.1	5																																																																																			-	pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.672	GRK6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRK6	protein_coding	OTTHUMT00000373204.1	C	NM_002082	-		176863465	+1	no_errors	ENST00000528793	ensembl	human	known	74_37	silent	SNP	0.998	T
MORC1	27136	genome.wustl.edu	37	3	108778673	108778673	+	Silent	SNP	C	C	T	rs564959353		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:108778673C>T	ENST00000483760.1	-	12	1054	c.1011G>A	c.(1009-1011)aaG>aaA	p.K337K	MORC1_ENST00000232603.5_Silent_p.K337K					MORC family CW-type zinc finger 1									p.K337K(2)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTAAGATTCTTTTGCTTTG	0.363																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000114487						156.0	134.0	141.0					3																	108778673		2203	4299	6502	MORC1	SO:0001819	synonymous_variant	0			-	HGNC	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1011G>A	3.37:g.108778673C>T		Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW	p.K337	ENST00000483760.1	37	c.1011		3																																																																																			-	NULL		0.363	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	protein_coding	OTTHUMT00000353844.1	C		-		108778673	-1	no_errors	ENST00000232603	ensembl	human	known	74_37	silent	SNP	0.007	T
GBP6	163351	genome.wustl.edu	37	1	89834284	89834284	+	Silent	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:89834284G>T	ENST00000370456.4	+	2	267	c.174G>T	c.(172-174)ctG>ctT	p.L58L	GBP6_ENST00000535065.1_Intron	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	58	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGAACCATCTGGCAGGACAGA	0.468																																																	0								ENSG00000183347						137.0	127.0	130.0					1																	89834284		2203	4300	6503	GBP6	SO:0001819	synonymous_variant	0			-	HGNC	BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.174G>T	1.37:g.89834284G>T		Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A2RRM3|Q6ZN86|Q7Z3F0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase	p.L58	ENST00000370456.4	37	c.174	CCDS723.1	1																																																																																			-	pfam_Guanylate-bd_N,superfamily_P-loop_NTPase		0.468	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	protein_coding	OTTHUMT00000028001.1	G	NM_198460	-		89834284	+1	no_errors	ENST00000370456	ensembl	human	known	74_37	silent	SNP	1.000	T
APOB	338	genome.wustl.edu	37	2	21246479	21246479	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:21246479C>T	ENST00000233242.1	-	17	2649	c.2522G>A	c.(2521-2523)gGa>gAa	p.G841E		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	841					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)					TAATCCAGCTCCAGTGGGGAG	0.453																																																	0								ENSG00000084674						96.0	90.0	92.0					2																	21246479		2203	4300	6503	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.2522G>A	2.37:g.21246479C>T	ENSP00000233242:p.Gly841Glu	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	31	22.50	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.G841E	ENST00000233242.1	37	c.2522	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	C	16.63	3.175998	0.57692	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.16743	2.32	5.35	5.35	0.76521	Lipid transport protein, beta-sheet shell (1);Vitellinogen, open beta-sheet (1);Vitellinogen, open beta-sheet, subdomain 2 (1);	0.000000	0.64402	D	0.000018	T	0.47266	0.1436	M	0.80028	2.48	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.49123	-0.8972	10	0.72032	D	0.01	.	19.4462	0.94847	0.0:1.0:0.0:0.0	.	841	P04114	APOB_HUMAN	E	841	ENSP00000233242:G841E	ENSP00000233242:G841E	G	-	2	0	APOB	21099984	0.983000	0.35010	0.830000	0.32933	0.340000	0.28889	3.746000	0.55127	2.675000	0.91044	0.655000	0.94253	GGA	-	pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell		0.453	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	protein_coding	OTTHUMT00000207571.1	C		-		21246479	-1	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	SNP	0.966	T
NLRX1	79671	genome.wustl.edu	37	11	119043613	119043613	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:119043613C>T	ENST00000409109.1	+	4	731	c.144C>T	c.(142-144)gcC>gcT	p.A48A	NLRX1_ENST00000409991.1_Silent_p.A48A|NLRX1_ENST00000292199.2_Silent_p.A48A|NLRX1_ENST00000409265.4_Silent_p.A48A|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000525863.1_Silent_p.A48A	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	48					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTCCCAGGGCCTTTATACGCC	0.597																																																	0								ENSG00000160703						74.0	69.0	70.0					11																	119043613		2200	4295	6495	NLRX1	SO:0001819	synonymous_variant	0			-	HGNC	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.144C>T	11.37:g.119043613C>T		Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	25	37.50	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A48	ENST00000409109.1	37	c.144	CCDS8416.1	11																																																																																			-	NULL		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	protein_coding	OTTHUMT00000335403.1	C	NM_170722	-		119043613	+1	no_errors	ENST00000292199	ensembl	human	known	74_37	silent	SNP	0.937	T
EIF2AK4	440275	genome.wustl.edu	37	15	40289171	40289171	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:40289171G>T	ENST00000263791.5	+	19	2816	c.2773G>T	c.(2773-2775)Gat>Tat	p.D925Y	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.D897Y	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	925	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TCAGAAAGTGGATCTCTTCAG	0.393																																																	0								ENSG00000128829						182.0	167.0	171.0					15																	40289171		1832	4092	5924	EIF2AK4	SO:0001583	missense	0			-	HGNC	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2773G>T	15.37:g.40289171G>T	ENSP00000263791:p.Asp925Tyr	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RWD-domain,superfamily_Kinase-like_dom,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Anticodon-bd,smart_RWD-domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_GCN2,pfscan_RWD-domain,pfscan_Prot_kinase_dom	p.D925Y	ENST00000263791.5	37	c.2773	CCDS42016.1	15	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804537	0.90623	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.75704	-0.96;-0.96	5.94	5.94	0.96194	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92743	0.7693	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94901	0.8056	10	0.87932	D	0	-25.4005	20.4169	0.99027	0.0:0.0:1.0:0.0	.	925	Q9P2K8	E2AK4_HUMAN	Y	925;897	ENSP00000263791:D925Y;ENSP00000372174:D897Y	ENSP00000263791:D925Y	D	+	1	0	EIF2AK4	38076463	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.327000	0.96396	2.838000	0.97847	0.579000	0.79373	GAT	-	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,pirsf_Ser/Thr_kinase_GCN2,pfscan_Prot_kinase_dom		0.393	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK4	protein_coding	OTTHUMT00000418395.1	G		-		40289171	+1	no_errors	ENST00000263791	ensembl	human	known	74_37	missense	SNP	1.000	T
MAGEB2	4113	genome.wustl.edu	37	X	30236748	30236748	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:30236748G>A	ENST00000378988.4	+	2	152	c.51G>A	c.(49-51)aaG>aaA	p.K17K		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	17										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						AACGCCGCAAGGCCCGAGATG	0.542																																																	0								ENSG00000099399						39.0	38.0	38.0					X																	30236748		2202	4300	6502	MAGEB2	SO:0001819	synonymous_variant	0			-	HGNC	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.51G>A	X.37:g.30236748G>A		Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	O75860	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K17	ENST00000378988.4	37	c.51	CCDS14219.1	X																																																																																			-	pfam_Melanoma_ass_antigen_N		0.542	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB2	protein_coding	OTTHUMT00000056157.1	G	NM_002364	-		30236748	+1	no_errors	ENST00000378988	ensembl	human	known	74_37	silent	SNP	0.000	A
GALNTL6	442117	genome.wustl.edu	37	4	173734807	173734807	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:173734807G>A	ENST00000506823.1	+	7	1513	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	GALNTL6_ENST00000508122.1_Missense_Mutation_p.E269K	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	286					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CTTCGACTGGGAAATGTACTA	0.557																																																	0								ENSG00000174473						93.0	88.0	90.0					4																	173734807		2203	4300	6503	GALNTL6	SO:0001583	missense	0			-	HGNC		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.856G>A	4.37:g.173734807G>A	ENSP00000423313:p.Glu286Lys	Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q2L4S6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E286K	ENST00000506823.1	37	c.856	CCDS34104.1	4	.	.	.	.	.	.	.	.	.	.	G	25.3	4.628270	0.87560	.	.	ENSG00000174473	ENST00000506823;ENST00000508122	T;T	0.59638	0.25;0.25	5.97	5.97	0.96955	Glycosyl transferase, family 2 (1);	0.079635	0.51477	D	0.000089	T	0.65831	0.2729	L	0.33339	1.005	0.80722	D	1	D	0.69078	0.997	D	0.74674	0.984	T	0.55055	-0.8200	10	0.09338	T	0.73	.	20.4387	0.99107	0.0:0.0:1.0:0.0	.	286	Q49A17	GLTL6_HUMAN	K	286;269	ENSP00000423313:E286K;ENSP00000423827:E269K	ENSP00000423313:E286K	E	+	1	0	GALNTL6	173971382	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.875000	0.87205	2.836000	0.97738	0.655000	0.94253	GAA	-	pfam_Glyco_trans_2		0.557	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL6	protein_coding	OTTHUMT00000362395.1	G	NM_001034845	-		173734807	+1	no_errors	ENST00000506823	ensembl	human	known	74_37	missense	SNP	1.000	A
PCDHB6	56130	genome.wustl.edu	37	5	140531420	140531420	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:140531420C>T	ENST00000231136.1	+	1	1582	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R392C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	528	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTCGAGTTCCGCGTGGGCGC	0.657																																																	0								ENSG00000113211						69.0	75.0	73.0					5																	140531420		2202	4300	6502	PCDHB6	SO:0001583	missense	0			-	HGNC	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1582C>T	5.37:g.140531420C>T	ENSP00000231136:p.Arg528Cys	Somatic	1	368	0.27		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	71	83	46.10	B2R8R9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R528C	ENST00000231136.1	37	c.1582	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782911	0.49891	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01767	4.65;4.65	4.19	-1.7	0.08159	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.05273	0.0140	L	0.55990	1.75	0.09310	N	0.999998	D	0.69078	0.997	P	0.61722	0.893	T	0.29181	-1.0020	9	0.72032	D	0.01	.	9.8273	0.40919	0.2282:0.2257:0.5462:0.0	.	528	Q9Y5E3	PCDB6_HUMAN	C	392;528;313	ENSP00000438466:R392C;ENSP00000231136:R528C	ENSP00000231136:R528C	R	+	1	0	PCDHB6	140511604	0.000000	0.05858	0.995000	0.50966	0.985000	0.73830	-5.233000	0.00139	0.000000	0.14550	0.556000	0.70494	CGC	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.657	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	protein_coding	OTTHUMT00000251818.2	C	NM_018939	-		140531420	+1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	SNP	0.040	T
TENM1	10178	genome.wustl.edu	37	X	123637445	123637445	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:123637445G>A	ENST00000371130.3	-	19	3473	c.3410C>T	c.(3409-3411)tCt>tTt	p.S1137F	TENM1_ENST00000422452.2_Missense_Mutation_p.S1137F	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1137					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CTTATTCAAAGACCAGCCTCC	0.358																																																	0								ENSG00000009694						166.0	161.0	162.0					X																	123637445		2203	4299	6502	TENM1	SO:0001583	missense	0			-	HGNC	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.3410C>T	X.37:g.123637445G>A	ENSP00000360171:p.Ser1137Phe	Somatic	0	52	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	14	44.00	B2RTR5|Q5JZ17	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.S1137F	ENST00000371130.3	37	c.3410	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	G	16.76	3.212220	0.58452	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87179	-2.22;-2.18	5.7	5.7	0.88788	.	0.134112	0.51477	D	0.000085	D	0.88187	0.6369	M	0.76170	2.325	0.58432	D	0.999995	P;P;P	0.42123	0.771;0.771;0.712	B;B;B	0.39617	0.305;0.305;0.245	D	0.89754	0.3942	10	0.87932	D	0	.	18.865	0.92289	0.0:0.0:1.0:0.0	.	1136;1137;1137	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	F	1137	ENSP00000360171:S1137F;ENSP00000403954:S1137F	ENSP00000360171:S1137F	S	-	2	0	ODZ1	123465126	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.961000	0.87903	2.402000	0.81655	0.600000	0.82982	TCT	-	NULL		0.358	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	protein_coding	OTTHUMT00000058985.1	G	NM_014253	-		123637445	-1	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	SNP	1.000	A
KRT33B	3884	genome.wustl.edu	37	17	39525831	39525831	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:39525831C>T	ENST00000251646.3	-	1	221	c.172G>A	c.(172-174)Gag>Aag	p.E58K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	58	Coil 1A.|Rod.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGCATAGTCTCCTTCTCGCTG	0.627																																																	0								ENSG00000131738						79.0	78.0	79.0					17																	39525831		2203	4300	6503	KRT33B	SO:0001583	missense	0			-	HGNC	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.172G>A	17.37:g.39525831C>T	ENSP00000251646:p.Glu58Lys	Somatic	0	197	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	70	27.84	O76010	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,prints_Keratin_I	p.E58K	ENST00000251646.3	37	c.172	CCDS11389.1	17	.	.	.	.	.	.	.	.	.	.	N	22.3	4.268219	0.80469	.	.	ENSG00000131738	ENST00000251646	D	0.90004	-2.6	4.44	4.44	0.53790	Filament (1);	0.000000	0.64402	D	0.000004	D	0.94879	0.8345	M	0.91196	3.185	0.32280	N	0.567741	D	0.76494	0.999	D	0.79108	0.992	D	0.95096	0.8226	10	0.59425	D	0.04	.	11.7989	0.52116	0.1754:0.8246:0.0:0.0	.	58	Q14525	KT33B_HUMAN	K	58	ENSP00000251646:E58K	ENSP00000251646:E58K	E	-	1	0	KRT33B	36779357	0.499000	0.26083	1.000000	0.80357	0.979000	0.70002	0.302000	0.19192	2.467000	0.83353	0.650000	0.86243	GAG	-	pfam_IF		0.627	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT33B	protein_coding	OTTHUMT00000257292.1	C	NM_002279	-		39525831	-1	no_errors	ENST00000251646	ensembl	human	known	74_37	missense	SNP	1.000	T
UBN2	254048	genome.wustl.edu	37	7	138968887	138968887	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:138968887C>T	ENST00000473989.3	+	15	3236	c.3236C>T	c.(3235-3237)tCc>tTc	p.S1079F	UBN2_ENST00000288561.8_Missense_Mutation_p.S996F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1079	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						ATTTCTAAATCCAACCCAACT	0.507																																																	0								ENSG00000157741						104.0	111.0	108.0					7																	138968887		1973	4139	6112	UBN2	SO:0001583	missense	0			-	HGNC	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3236C>T	7.37:g.138968887C>T	ENSP00000418648:p.Ser1079Phe	Somatic	0	112	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	36	12.20	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S1079F	ENST00000473989.3	37	c.3236	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	C	17.34	3.364646	0.61513	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.39406	1.16;1.08	5.51	5.51	0.81932	.	0.086607	0.50627	D	0.000118	T	0.58935	0.2157	L	0.40543	1.245	0.58432	D	0.999991	D	0.65815	0.995	D	0.75484	0.986	T	0.59413	-0.7459	10	0.72032	D	0.01	-9.3717	19.7923	0.96464	0.0:1.0:0.0:0.0	.	1079	Q6ZU65	UBN2_HUMAN	F	1079;996	ENSP00000418648:S1079F;ENSP00000288561:S996F	ENSP00000288561:S996F	S	+	2	0	UBN2	138619427	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	3.539000	0.53604	2.752000	0.94435	0.557000	0.71058	TCC	-	NULL		0.507	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	protein_coding	OTTHUMT00000349272.3	C	NM_173569	-		138968887	+1	no_errors	ENST00000473989	ensembl	human	known	74_37	missense	SNP	1.000	T
RXRB	6257	genome.wustl.edu	37	6	33162790	33162790	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:33162790G>A	ENST00000374680.3	-	9	1597	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000395194.1_5'Flank|RXRB_ENST00000374685.4_Silent_p.V466V|COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000374713.1_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000395197.1_5'Flank|RXRB_ENST00000544186.1_Silent_p.V276V|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000341947.2_5'Flank	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	462	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TCTCCCGCAGGACCTCCACCT	0.572																																																	0								ENSG00000204231						69.0	70.0	70.0					6																	33162790		1510	2708	4218	RXRB	SO:0001819	synonymous_variant	0			-	HGNC	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1386C>T	6.37:g.33162790G>A		Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	12	25.00	P28703|Q59G65|Q5JP92|Q5STQ1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.V462	ENST00000374680.3	37	c.1386	CCDS4768.1	6																																																																																			-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoid-X_rcpt/HNF4,prints_Retinoic_acid_rcpt		0.572	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	protein_coding	OTTHUMT00000076642.2	G	NM_021976	-		33162790	-1	no_errors	ENST00000374680	ensembl	human	known	74_37	silent	SNP	0.995	A
PEAK1	79834	genome.wustl.edu	37	15	77407240	77407240	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:77407240A>G	ENST00000560626.2	-	7	4974	c.4499T>C	c.(4498-4500)cTa>cCa	p.L1500P	PEAK1_ENST00000312493.4_Missense_Mutation_p.L1500P			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACCAGAGCATAGCTGTAAGAG	0.537																																																	0								ENSG00000173517						61.0	64.0	63.0					15																	77407240		2064	4204	6268	PEAK1	SO:0001583	missense	0			-	HGNC		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.4499T>C	15.37:g.77407240A>G	ENSP00000452796:p.Leu1500Pro	Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.L1500P	ENST00000560626.2	37	c.4499	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	A	19.73	3.881122	0.72294	.	.	ENSG00000173517	ENST00000312493	T	0.78481	-1.18	5.03	5.03	0.67393	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	U	0.000029	D	0.90741	0.7094	M	0.93150	3.385	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93159	0.6556	10	0.87932	D	0	-6.2643	14.7608	0.69604	1.0:0.0:0.0:0.0	.	1500	Q9H792	PEAK1_HUMAN	P	1500	ENSP00000309230:L1500P	ENSP00000309230:L1500P	L	-	2	0	AC087465.1	75194295	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.339000	0.96797	1.911000	0.55334	0.459000	0.35465	CTA	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.537	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	protein_coding	OTTHUMT00000419483.3	A		-		77407240	-1	no_errors	ENST00000312493	ensembl	human	known	74_37	missense	SNP	1.000	G
ATP8B1	5205	genome.wustl.edu	37	18	55328440	55328440	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:55328440G>A	ENST00000283684.4	-	21	2672	c.2673C>T	c.(2671-2673)atC>atT	p.I891I	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Silent_p.I891I			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	891					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CCCCATCTCCGATGGCCAGCG	0.572																																																	0								ENSG00000081923						93.0	75.0	81.0					18																	55328440		2203	4300	6503	ATP8B1	SO:0001819	synonymous_variant	0			-	HGNC	AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.2673C>T	18.37:g.55328440G>A		Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	Q9BTP8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.I891	ENST00000283684.4	37	c.2673	CCDS11965.1	18																																																																																			-	superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_Cation_transp_P_typ_ATPase		0.572	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	protein_coding	OTTHUMT00000256097.1	G	NM_005603	-		55328440	-1	no_errors	ENST00000283684	ensembl	human	known	74_37	silent	SNP	0.477	A
TENM2	57451	genome.wustl.edu	37	5	167689283	167689283	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:167689283C>T	ENST00000518659.1	+	29	7832	c.7793C>T	c.(7792-7794)tCt>tTt	p.S2598F	TENM2_ENST00000520394.1_Missense_Mutation_p.S2359F|TENM2_ENST00000545108.1_Missense_Mutation_p.S2597F|TENM2_ENST00000519204.1_Missense_Mutation_p.S2477F|TENM2_ENST00000403607.2_Missense_Mutation_p.S2422F	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2598					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AAGGTGGCATCTGTGCTGAAC	0.562																																																	0								ENSG00000145934						42.0	47.0	45.0					5																	167689283		2117	4242	6359	TENM2	SO:0001583	missense	0			-	HGNC	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.7793C>T	5.37:g.167689283C>T	ENSP00000429430:p.Ser2598Phe	Somatic	0	15	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	Q9ULU2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.S2598F	ENST00000518659.1	37	c.7793		5	.	.	.	.	.	.	.	.	.	.	C	8.003	0.755819	0.15846	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90563	-2.22;-2.2;-2.32;-2.69;-2.68	5.42	5.42	0.78866	.	0.201022	0.44097	D	0.000496	D	0.86201	0.5876	N	0.22421	0.69	0.09310	N	1	B;B;B	0.31435	0.323;0.217;0.078	B;B;B	0.38378	0.272;0.14;0.037	T	0.81180	-0.1050	10	0.87932	D	0	.	12.8866	0.58047	0.0:0.9252:0.0:0.0748	.	2597;2598;2359	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	F	2598;2597;2477;2359;2422	ENSP00000429430:S2598F;ENSP00000438635:S2597F;ENSP00000428964:S2477F;ENSP00000427874:S2359F;ENSP00000384905:S2422F	ENSP00000384905:S2422F	S	+	2	0	ODZ2	167621861	0.690000	0.27699	0.034000	0.17996	0.674000	0.39518	3.638000	0.54332	2.694000	0.91930	0.655000	0.94253	TCT	-	superfamily_Cytokine_IL1-like		0.562	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	protein_coding	OTTHUMT00000376096.1	C	NM_001122679	-		167689283	+1	no_errors	ENST00000518659	ensembl	human	known	74_37	missense	SNP	0.006	T
OR5P2	120065	genome.wustl.edu	37	11	7818216	7818216	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:7818216C>T	ENST00000329434.2	-	1	304	c.274G>A	c.(274-276)Gga>Aga	p.G92R	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGGCACATCCAAGGTAGGAG	0.502																																																	0								ENSG00000183303						96.0	114.0	108.0					11																	7818216		2102	4292	6394	OR5P2	SO:0001583	missense	0			-	HGNC	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.274G>A	11.37:g.7818216C>T	ENSP00000331823:p.Gly92Arg	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	32	13.51	Q3MIS8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G92R	ENST00000329434.2	37	c.274	CCDS7782.1	11	.	.	.	.	.	.	.	.	.	.	C	18.09	3.546154	0.65198	.	.	ENSG00000183303	ENST00000329434	T	0.09817	2.94	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.191759	0.37095	N	0.002250	T	0.34978	0.0916	M	0.79011	2.435	0.38729	D	0.953611	D	0.76494	0.999	D	0.71184	0.972	T	0.09335	-1.0679	10	0.72032	D	0.01	-10.1488	16.9428	0.86222	0.0:1.0:0.0:0.0	.	92	Q8WZ92	OR5P2_HUMAN	R	92	ENSP00000331823:G92R	ENSP00000331823:G92R	G	-	1	0	OR5P2	7774792	0.062000	0.20869	0.975000	0.42487	0.469000	0.32828	3.428000	0.52792	2.868000	0.98415	0.555000	0.69702	GGA	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	protein_coding	OTTHUMT00000385696.1	C	NM_153444	-		7818216	-1	no_errors	ENST00000329434	ensembl	human	known	74_37	missense	SNP	0.977	T
SLC35D1	23169	genome.wustl.edu	37	1	67519562	67519562	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:67519562G>A	ENST00000235345.5	-	1	220	c.135C>T	c.(133-135)gcC>gcT	p.A45A	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	45					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AAAAGCCGGCGGCCAGCAGCT	0.627																																																	0								ENSG00000116704						45.0	47.0	46.0					1																	67519562		2203	4300	6503	SLC35D1	SO:0001819	synonymous_variant	0			-	HGNC	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.135C>T	1.37:g.67519562G>A		Somatic	0	106	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	23	61.02	A8K185|B7Z3X2|Q52LU5|Q92548	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tpt_PEP_trans_dom	p.A45	ENST00000235345.5	37	c.135	CCDS636.1	1																																																																																			-	NULL		0.627	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	protein_coding	OTTHUMT00000025948.1	G	NM_015139	-		67519562	-1	no_errors	ENST00000235345	ensembl	human	known	74_37	silent	SNP	1.000	A
EIF4A2	1974	genome.wustl.edu	37	3	186501285	186501285	+	5'Flank	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:186501285G>A	ENST00000323963.5	+	0	0				EIF4A2_ENST00000440191.2_5'Flank|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_5'Flank|SNORD2_ENST00000459163.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTAGCTGACCGAAGCACGGCG	0.498			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0								ENSG00000263826																																			RP11-573D15.9	SO:0001631	upstream_gene_variant	0			-	Clone_based_vega_gene	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564		3.37:g.186501285G>A	Exception_encountered	Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	19	51.28	D3DNU9|Q53XJ6|Q96B90|Q96EA8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000323963.5	37	NULL	CCDS3282.1	3																																																																																			-	-		0.498	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000263826	protein_coding	OTTHUMT00000344609.1	G	NM_001967	-		186501285	-1	no_errors	ENST00000577781	ensembl	human	known	74_37	rna	SNP	0.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79320442	79320442	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:79320442A>G	ENST00000376718.3	-	8	6871	c.6748T>C	c.(6748-6750)Tgg>Cgg	p.W2250R	PRUNE2_ENST00000428286.1_Missense_Mutation_p.W1891R	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2250					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTGATATCCAAGAACCGTCA	0.438																																																	0								ENSG00000106772						55.0	52.0	53.0					9																	79320442		1568	3582	5150	PRUNE2	SO:0001583	missense	0			-	HGNC	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.6748T>C	9.37:g.79320442A>G	ENSP00000365908:p.Trp2250Arg	Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.W1891R	ENST00000376718.3	37	c.5671	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.822|4.822	0.152737|0.152737	0.09185|0.09185	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.43294	.|0.95;0.95	5.92|5.92	2.26|2.26	0.28386|0.28386	.|.	.|0.781385	.|0.11661	.|N	.|0.541788	T|T	0.32556|0.32556	0.0833|0.0833	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	.|B	.|0.14805	.|0.011	.|B	.|0.06405	.|0.002	T|T	0.29274|0.29274	-1.0017|-1.0017	5|10	.|0.62326	.|D	.|0.03	0.0355|0.0355	5.6958|5.6958	0.17855|0.17855	0.6605:0.1344:0.2051:0.0|0.6605:0.1344:0.2051:0.0	.|.	.|2250	.|Q8WUY3	.|PRUN2_HUMAN	S|R	1571|2250;1891;2249	.|ENSP00000365908:W2250R;ENSP00000397425:W1891R	.|ENSP00000365908:W2250R	L|W	-|-	2|1	0|0	PRUNE2|PRUNE2	78510262|78510262	0.017000|0.017000	0.18338|0.18338	0.006000|0.006000	0.13384|0.13384	0.036000|0.036000	0.12997|0.12997	0.848000|0.848000	0.27710|0.27710	0.459000|0.459000	0.27016|0.27016	0.533000|0.533000	0.62120|0.62120	TTG|TGG	-	NULL		0.438	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	A	NM_138818	-		79320442	-1	no_errors	ENST00000428286	ensembl	human	known	74_37	missense	SNP	0.002	G
PHPT1	29085	genome.wustl.edu	37	9	139744760	139744760	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:139744760C>T	ENST00000247665.10	+	2	622				PHPT1_ENST00000492540.1_3'UTR|MAMDC4_ENST00000317446.2_5'Flank|PHPT1_ENST00000371661.1_Intron|PHPT1_ENST00000545326.1_Intron|MAMDC4_ENST00000445819.1_5'Flank	NM_014172.4	NP_054891.2	Q9NRX4	PHP14_HUMAN	phosphohistidine phosphatase 1						negative regulation of ATP citrate synthase activity (GO:2000984)|negative regulation of lyase activity (GO:0051350)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-histidine dephosphorylation (GO:0035971)|positive regulation of cell motility (GO:2000147)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|protein dephosphorylation (GO:0006470)|regulation of actin cytoskeleton reorganization (GO:2000249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium channel inhibitor activity (GO:0019855)|ion channel binding (GO:0044325)|phosphohistidine phosphatase activity (GO:0008969)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|large_intestine(1)|lung(1)	3	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCTGCATTCCCCCATGGAGCA	0.682																																																	0								ENSG00000054148																																			PHPT1	SO:0001627	intron_variant	0			-	HGNC	AF131857	CCDS7009.1, CCDS48060.1	9q34.3	2008-02-05			ENSG00000054148	ENSG00000054148	3.1.3.-		30033	protein-coding gene	gene with protein product	"""phosphohistidine phosphatase 14kDa"", "" sex-regulated protein janus-a"""	610167				11042152, 8619474	Standard	NM_014172		Approved	PHP14, HSPC141, CGI-202, DKFZp564M173, bA216L13.10	uc004cjq.4	Q9NRX4	OTTHUMG00000020950	ENST00000247665.10:c.285+171C>T	9.37:g.139744760C>T		Somatic	0	39	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	B1AMX0|B1AMX1|Q9H0Y3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000247665.10	37	NULL	CCDS7009.1	9																																																																																			-	-		0.682	PHPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHPT1	protein_coding	OTTHUMT00000055150.1	C	NM_014172	-		139744760	+1	no_errors	ENST00000492540	ensembl	human	known	74_37	rna	SNP	0.000	T
TRO	7216	genome.wustl.edu	37	X	54950843	54950843	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:54950843C>T	ENST00000173898.7	+	4	1348				TRO_ENST00000375041.2_Intron|TRO_ENST00000319167.8_Intron|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000375022.4_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin						embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						CCATCTCTTTCACCTGGTGAC	0.537																																																	0								ENSG00000067445						40.0	36.0	37.0					X																	54950843		2050	4182	6232	TRO	SO:0001627	intron_variant	0			-	HGNC	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1237-41C>T	X.37:g.54950843C>T		Somatic	0	22	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	6	64.71	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000173898.7	37	NULL	CCDS43959.1	X																																																																																			-	-		0.537	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	protein_coding	OTTHUMT00000056837.3	C	NM_016157	-		54950843	+1	no_errors	ENST00000492142	ensembl	human	known	74_37	rna	SNP	0.002	T
FSHR	2492	genome.wustl.edu	37	2	49190277	49190277	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:49190277G>A	ENST00000406846.2	-	10	1802	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	FSHR_ENST00000541117.1_Silent_p.I297I|FSHR_ENST00000304421.4_Silent_p.I535I|FSHR_ENST00000346173.3_Silent_p.I499I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	561					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.I561I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AGGAGGACACGATGTTGGGGT	0.517									Gonadal Dysgenesis, 46 XX																																								1	Substitution - coding silent(1)	endometrium(1)						ENSG00000170820						112.0	93.0	99.0					2																	49190277		2203	4300	6503	FSHR	SO:0001819	synonymous_variant	0	Familial Cancer Database		-	HGNC		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1683C>T	2.37:g.49190277G>A		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt	p.I561	ENST00000406846.2	37	c.1683	CCDS1843.1	2																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.517	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	protein_coding	OTTHUMT00000251367.2	G		-		49190277	-1	no_errors	ENST00000406846	ensembl	human	known	74_37	silent	SNP	0.280	A
MAGEB18	286514	genome.wustl.edu	37	X	26157607	26157607	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:26157607C>T	ENST00000325250.1	+	2	692	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	169	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GGAAGTGGATCCCATCAGGCA	0.438																																																	0								ENSG00000176774						58.0	45.0	49.0					X																	26157607		2202	4300	6502	MAGEB18	SO:0001583	missense	0			-	HGNC	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.505C>T	X.37:g.26157607C>T	ENSP00000314543:p.Pro169Ser	Somatic	0	26	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	7	56.25		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P169S	ENST00000325250.1	37	c.505	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	C	11.36	1.617042	0.28801	.	.	ENSG00000176774	ENST00000325250	T	0.04603	3.59	4.32	3.46	0.39613	.	0.258733	0.37809	N	0.001921	T	0.14270	0.0345	M	0.72894	2.215	0.34071	D	0.658458	D	0.76494	0.999	D	0.65573	0.936	T	0.14117	-1.0484	10	0.33940	T	0.23	.	7.2151	0.25955	0.0:0.8799:0.0:0.1201	.	169	Q96M61	MAGBI_HUMAN	S	169	ENSP00000314543:P169S	ENSP00000314543:P169S	P	+	1	0	MAGEB18	26067528	0.994000	0.37717	0.945000	0.38365	0.503000	0.33858	3.052000	0.49893	1.184000	0.42957	0.600000	0.82982	CCC	-	pfam_MAGE,pfscan_MAGE		0.438	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	protein_coding	OTTHUMT00000056120.1	C	NM_173699	-		26157607	+1	no_errors	ENST00000325250	ensembl	human	known	74_37	missense	SNP	0.932	T
SNX14	57231	genome.wustl.edu	37	6	86251718	86251718	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:86251718delT	ENST00000314673.3	-	15	1609	c.1433delA	c.(1432-1434)aatfs	p.N478fs	SNX14_ENST00000513865.1_Intron|SNX14_ENST00000505648.1_Frame_Shift_Del_p.N426fs|SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000346348.3_Frame_Shift_Del_p.N434fs|SNX14_ENST00000369627.2_Frame_Shift_Del_p.N478fs	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	478					protein transport (GO:0015031)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)	phosphatidylinositol binding (GO:0035091)			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CAATTTTGAATTGCGTGTTGG	0.279																																																	0								ENSG00000135317						103.0	91.0	95.0					6																	86251718		2203	4298	6501	SNX14	SO:0001589	frameshift_variant	0				HGNC	AF121863	CCDS5003.1, CCDS5004.1, CCDS75490.1	6q15	2008-10-22			ENSG00000135317	ENSG00000135317		"""Sorting nexins"""	14977	protein-coding gene	gene with protein product						11485546, 11736640	Standard	XM_005248738		Approved	RGS-PX2	uc003pkr.3	Q9Y5W7	OTTHUMG00000015140	ENST00000314673.3:c.1433delA	6.37:g.86251718delT	ENSP00000313121:p.Asn478fs	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	B4DI55|Q4VBR3|Q5TCF9|Q5TCG0|Q6NUI7|Q6PI37|Q9BSD1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam	p.N478fs	ENST00000314673.3	37	c.1433	CCDS5004.1	6																																																																																			-	NULL		0.279	SNX14-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX14	protein_coding	OTTHUMT00000041393.2	T	NM_153816			86251718	-1	no_errors	ENST00000314673	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
TP53	7157	genome.wustl.edu	37	17	7578527	7578527	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:7578527A>G	ENST00000269305.4	-	5	592	c.403T>C	c.(403-405)Tgc>Cgc	p.C135R	TP53_ENST00000445888.2_Missense_Mutation_p.C135R|TP53_ENST00000420246.2_Missense_Mutation_p.C135R|TP53_ENST00000359597.4_Missense_Mutation_p.C135R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C135R|TP53_ENST00000455263.2_Missense_Mutation_p.C135R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135R(11)|p.0?(8)|p.C135G(6)|p.C135fs*35(4)|p.C135S(4)|p.N131fs*27(2)|p.V73fs*9(1)|p.F134_T140>S(1)|p.C135_T140delCQLAKT(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.K132_A138delKMFCQLA(1)|p.C135fs*36(1)|p.S127_Q136del10(1)|p.C135T(1)|p.F134fs*14(1)|p.C42R(1)|p.M133fs*13(1)|p.C3R(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)	GCCAGTTGGCAAAACATCTTG	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	49	Substitution - Missense(24)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Complex - deletion inframe(1)	haematopoietic_and_lymphoid_tissue(8)|central_nervous_system(5)|biliary_tract(5)|breast(5)|large_intestine(4)|oesophagus(4)|lung(4)|bone(4)|upper_aerodigestive_tract(2)|urinary_tract(2)|pancreas(2)|stomach(1)|skin(1)|penis(1)|ovary(1)						ENSG00000141510						49.0	50.0	49.0					17																	7578527		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.403T>C	17.37:g.7578527A>G	ENSP00000269305:p.Cys135Arg	Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	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.C135R	ENST00000269305.4	37	c.403	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.8	4.340491	0.81911	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99800	-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8;-6.8	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99743	0.9898	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97181	0.9851	10	0.87932	D	0	-26.815	13.8301	0.63375	1.0:0.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135R;ENSP00000352610:C135R;ENSP00000269305:C135R;ENSP00000398846:C135R;ENSP00000391127:C135R;ENSP00000391478:C135R;ENSP00000425104:C3R;ENSP00000423862:C42R;ENSP00000424104:C135R	ENSP00000269305:C135R	C	-	1	0	TP53	7519252	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.283000	0.95860	2.206000	0.71126	0.533000	0.62120	TGC	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546	-		7578527	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	G
CHFR	55743	genome.wustl.edu	37	12	133446393	133446393	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:133446393C>T	ENST00000432561.2	-	6	504	c.431G>A	c.(430-432)gGg>gAg	p.G144E	CHFR_ENST00000266880.7_Missense_Mutation_p.G144E|CHFR_ENST00000315585.7_Intron|CHFR_ENST00000443047.2_Intron|CHFR_ENST00000541837.2_Intron|CHFR_ENST00000450056.2_Intron			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	144					mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|modification-dependent protein catabolic process (GO:0019941)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)|PML body (GO:0016605)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		ATCTTTGGTCCCATGGAACAC	0.562																																																	0								ENSG00000072609						24.0	33.0	30.0					12																	133446393		692	1591	2283	CHFR	SO:0001583	missense	0			-	HGNC	AK001658	CCDS31937.1, CCDS53847.1, CCDS53848.1, CCDS53849.1	12q24.33	2012-02-23	2012-02-23			ENSG00000072609		"""RING-type (C3HC4) zinc fingers"""	20455	protein-coding gene	gene with protein product		605209	"""checkpoint with forkhead and ring finger domains"""			10935642, 11807090	Standard	NM_001161344		Approved	FLJ10796, RNF196	uc001ulf.2	Q96EP1		ENST00000432561.2:c.431G>A	12.37:g.133446393C>T	ENSP00000392395:p.Gly144Glu	Somatic	0	33	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	7	36.36	A6NEN5|B4DZ77|B4E2L6|Q96SL3|Q9NRT4|Q9NT32|Q9NVD5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Znf_RING,pfscan_FHA_dom,pfscan_Znf_RING	p.G144E	ENST00000432561.2	37	c.431	CCDS53849.1	12	.	.	.	.	.	.	.	.	.	.	C	1.027	-0.683040	0.03353	.	.	ENSG00000072609	ENST00000266880;ENST00000432561;ENST00000542714	T;T	0.16324	2.35;2.61	5.67	-2.32	0.06745	Forkhead-associated (FHA) domain (1);	0.989962	0.08245	N	0.975520	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	B;B	0.17038	0.02;0.012	B;B	0.15870	0.014;0.006	T	0.39820	-0.9595	10	0.02654	T	1	-16.4465	5.5105	0.16878	0.4638:0.2515:0.2847:0.0	.	144;144	Q96EP1-4;Q96EP1	.;CHFR_HUMAN	E	144;144;16	ENSP00000266880:G144E;ENSP00000392395:G144E	ENSP00000266880:G144E	G	-	2	0	CHFR	131956466	0.139000	0.22563	0.026000	0.17262	0.369000	0.29798	0.508000	0.22692	-0.409000	0.07553	-0.694000	0.03704	GGG	-	NULL		0.562	CHFR-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	CHFR	protein_coding	OTTHUMT00000397130.2	C		-		133446393	-1	no_errors	ENST00000266880	ensembl	human	known	74_37	missense	SNP	0.035	T
TGM3	7053	genome.wustl.edu	37	20	2293563	2293563	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:2293563G>A	ENST00000381458.5	+	5	623	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	187					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GACATTCTCAGCATCTGCCTC	0.473																																																	0								ENSG00000125780						195.0	181.0	186.0					20																	2293563		2203	4300	6503	TGM3	SO:0001583	missense	0			-	HGNC	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.560G>A	20.37:g.2293563G>A	ENSP00000370867:p.Ser187Asn	Somatic	0	78	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	28	28.21	A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.S187N	ENST00000381458.5	37	c.560	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	G	2.441	-0.328522	0.05314	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.88664	-2.41	5.79	0.27	0.15635	.	0.610250	0.19444	N	0.114119	T	0.53916	0.1826	N	0.00099	-2.14	0.22851	N	0.998651	B	0.02656	0.0	B	0.01281	0.0	T	0.59883	-0.7370	10	0.12103	T	0.63	.	5.1999	0.15258	0.5444:0.1418:0.3139:0.0	.	187	Q08188	TGM3_HUMAN	N	187	ENSP00000370867:S187N	ENSP00000370867:S187N	S	+	2	0	TGM3	2241563	0.978000	0.34361	0.990000	0.47175	0.614000	0.37383	1.082000	0.30803	-0.208000	0.10171	-0.314000	0.08810	AGC	-	NULL		0.473	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	protein_coding	OTTHUMT00000077579.2	G	NM_003245	-		2293563	+1	no_errors	ENST00000381458	ensembl	human	known	74_37	missense	SNP	1.000	A
EP400	57634	genome.wustl.edu	37	12	132466722	132466722	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:132466722C>T	ENST00000333577.4	+	6	1845	c.1736C>T	c.(1735-1737)cCc>cTc	p.P579L	EP400_ENST00000332482.4_Missense_Mutation_p.P506L|EP400_ENST00000389561.2_Missense_Mutation_p.P543L|EP400_ENST00000389562.2_Missense_Mutation_p.P542L|EP400_ENST00000330386.6_Missense_Mutation_p.P543L			Q96L91	EP400_HUMAN	E1A binding protein p400	579					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACGGGGCCTCCCGTGCAGAAC	0.672																																																	0								ENSG00000183495						53.0	63.0	60.0					12																	132466722		2203	4299	6502	EP400	SO:0001583	missense	0			-	HGNC	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1736C>T	12.37:g.132466722C>T	ENSP00000333602:p.Pro579Leu	Somatic	0	57	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P579L	ENST00000333577.4	37	c.1736		12	.	.	.	.	.	.	.	.	.	.	C	15.15	2.749027	0.49257	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90069	-2.58;-2.6;-2.59;-2.61;-2.57	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.93736	0.7998	M	0.65975	2.015	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	D	0.91581	0.5279	10	0.27785	T	0.31	.	19.6689	0.95903	0.0:1.0:0.0:0.0	.	543;543;542;579;506	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	L	506;579;543;542;506;543;579;543;543	ENSP00000333602:P579L;ENSP00000374212:P543L;ENSP00000374213:P542L;ENSP00000331737:P506L;ENSP00000330620:P543L	ENSP00000330620:P543L	P	+	2	0	EP400	131032675	1.000000	0.71417	0.960000	0.40013	0.442000	0.32017	5.749000	0.68704	2.642000	0.89623	0.655000	0.94253	CCC	-	NULL		0.672	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	protein_coding		C	NM_015409	-		132466722	+1	no_errors	ENST00000333577	ensembl	human	known	74_37	missense	SNP	1.000	T
RRP12	23223	genome.wustl.edu	37	10	99125819	99125819	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:99125819G>A	ENST00000370992.4	-	29	3629				RRP12_ENST00000414986.1_Intron|RRP12_ENST00000536831.1_Intron|RRP12_ENST00000315563.6_Intron|RRP12_ENST00000479481.1_Intron	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)							integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ATCACCGAAGGAATAAGTGAA	0.478																																																	0								ENSG00000052749						195.0	164.0	174.0					10																	99125819		2203	4300	6503	RRP12	SO:0001627	intron_variant	0			-	HGNC		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3517+45C>T	10.37:g.99125819G>A		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000370992.4	37	NULL	CCDS7457.1	10																																																																																			-	-		0.478	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RRP12	protein_coding	OTTHUMT00000049699.4	G	NM_015179	-		99125819	-1	no_errors	ENST00000487612	ensembl	human	known	74_37	rna	SNP	0.008	A
POU3F1	5453	genome.wustl.edu	37	1	38511170	38511170	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:38511170C>T	ENST00000373012.2	-	1	1280	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	416					axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGCCCTAGCTCCCCAGGCGCG	0.756																																																	0								ENSG00000185668						7.0	8.0	8.0					1																	38511170		2165	4227	6392	POU3F1	SO:0001583	missense	0			-	HGNC	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.1246G>A	1.37:g.38511170C>T	ENSP00000362103:p.Glu416Lys	Somatic	0	17	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q5TAG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.E416K	ENST00000373012.2	37	c.1246	CCDS30679.1	1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832478	0.50845	.	.	ENSG00000185668	ENST00000373012	D	0.84070	-1.8	3.75	3.75	0.43078	.	.	.	.	.	T	0.69278	0.3093	N	0.08118	0	0.58432	D	0.999992	B	0.29531	0.247	B	0.30316	0.114	T	0.72421	-0.4299	9	0.66056	D	0.02	.	14.5526	0.68078	0.0:1.0:0.0:0.0	.	416	Q03052	PO3F1_HUMAN	K	416	ENSP00000362103:E416K	ENSP00000362103:E416K	E	-	1	0	POU3F1	38283757	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.429000	0.52800	1.955000	0.56771	0.456000	0.33151	GAG	-	pirsf_Transcription_factor_POU		0.756	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F1	protein_coding	OTTHUMT00000001213.1	C	NM_002699	-		38511170	-1	no_errors	ENST00000373012	ensembl	human	known	74_37	missense	SNP	1.000	T
C19orf53	28974	genome.wustl.edu	37	19	13888893	13888893	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:13888893A>C	ENST00000588234.1	+	3	491	c.181A>C	c.(181-183)Atc>Ctc	p.I61L	C19orf53_ENST00000593274.1_Missense_Mutation_p.I18L	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	61										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			CCGGAAGAAGATCGAACATGA	0.592																																																	0								ENSG00000104979						114.0	111.0	112.0					19																	13888893		2203	4300	6503	C19orf53	SO:0001583	missense	0			-	HGNC	AF078852	CCDS12298.1	19p13.2	2011-11-24			ENSG00000104979	ENSG00000104979			24991	protein-coding gene	gene with protein product	"""leydig cell tumor 10 kDa protein homolog"""					11042152	Standard	NM_014047		Approved	HSPC023, LYDG10	uc002mxg.3	Q9UNZ5		ENST00000588234.1:c.181A>C	19.37:g.13888893A>C	ENSP00000465432:p.Ile61Leu	Somatic	0	94	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	B2R4J9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UPF0390	p.I61L	ENST00000588234.1	37	c.181	CCDS12298.1	19	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296743	0.81025	.	.	ENSG00000104979	ENST00000221576	.	.	.	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.77785	0.4182	.	.	.	0.48762	D	0.999701	D	0.58620	0.983	D	0.73708	0.981	T	0.80482	-0.1363	8	0.66056	D	0.02	.	12.3548	0.55169	1.0:0.0:0.0:0.0	.	61	Q9UNZ5	L10K_HUMAN	L	61	.	ENSP00000221576:I61L	I	+	1	0	C19orf53	13749893	1.000000	0.71417	0.989000	0.46669	0.949000	0.60115	6.654000	0.74387	1.814000	0.52955	0.397000	0.26171	ATC	-	pfam_UPF0390		0.592	C19orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf53	protein_coding	OTTHUMT00000453621.1	A	NM_014047	-		13888893	+1	no_errors	ENST00000588234	ensembl	human	known	74_37	missense	SNP	1.000	C
GPR152	390212	genome.wustl.edu	37	11	67220225	67220225	+	5'Flank	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:67220225G>A	ENST00000312457.2	-	0	0				CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000325656.5_5'Flank	NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGGACACGGAGTGGGTGCC	0.587																																					Pancreas(102;800 1581 2723 7382 33622)												0								ENSG00000175544						28.0	29.0	28.0					11																	67220225		2148	4142	6290	CABP4	SO:0001631	upstream_gene_variant	0			-	HGNC	AY255600	CCDS8165.1	11q13.2	2013-09-20			ENSG00000175514	ENSG00000175514		"""GPCR / Class A : Orphans"""	23622	protein-coding gene	gene with protein product						12679517	Standard	NM_206997		Approved	PGR5	uc001olm.3	Q8TDT2	OTTHUMG00000168032		11.37:g.67220225G>A	Exception_encountered	Somatic	0	39	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	16	20.00	Q0VD88|Q86SM0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000312457.2	37	NULL	CCDS8165.1	11																																																																																			-	-		0.587	GPR152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABP4	protein_coding	OTTHUMT00000397623.1	G		-		67220225	+1	no_errors	ENST00000542025	ensembl	human	putative	74_37	rna	SNP	0.006	A
EPHA8	2046	genome.wustl.edu	37	1	22915715	22915715	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:22915715C>T	ENST00000166244.3	+	5	1387				EPHA8_ENST00000538803.1_Missense_Mutation_p.S444F|EPHA8_ENST00000374644.4_Missense_Mutation_p.S444F	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGGAGAAACTCCGTCCCGCAG	0.667																																																	0								ENSG00000070886						36.0	36.0	36.0					1																	22915715		2203	4300	6503	EPHA8	SO:0001627	intron_variant	0			-	HGNC	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.1315+16C>T	1.37:g.22915715C>T		Somatic	0	134	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	55	36.05	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ephrin_rcpt_lig-bd_dom,pfam_Fibronectin_type3,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S444F	ENST00000166244.3	37	c.1331	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.194618	0.38806	.	.	ENSG00000070886	ENST00000374644;ENST00000538803	T;T	0.01295	5.04;5.04	4.52	3.6	0.41247	.	.	.	.	.	T	0.01287	0.0042	.	.	.	0.09310	N	0.999997	B	0.28933	0.228	B	0.27715	0.082	T	0.50676	-0.8800	7	.	.	.	.	10.6559	0.45675	0.0:0.9044:0.0:0.0956	.	444	P29322-2	.	F	444	ENSP00000363775:S444F;ENSP00000440274:S444F	.	S	+	2	0	EPHA8	22788302	0.000000	0.05858	0.022000	0.16811	0.037000	0.13140	-0.184000	0.09698	1.252000	0.44001	0.436000	0.28706	TCC	-	NULL		0.667	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	C	NM_020526	-		22915715	+1	no_errors	ENST00000374644	ensembl	human	known	74_37	missense	SNP	0.294	T
XIRP2	129446	genome.wustl.edu	37	2	168107021	168107021	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:168107021G>A	ENST00000409195.1	+	9	9208	c.9119G>A	c.(9118-9120)gGa>gAa	p.G3040E	XIRP2_ENST00000295237.9_Missense_Mutation_p.G3040E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G2818E|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2865					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TCCAAAACAGGAAAACCGGGA	0.318																																																	0								ENSG00000163092						97.0	92.0	94.0					2																	168107021		1834	4069	5903	XIRP2	SO:0001583	missense	0			-	HGNC	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.9119G>A	2.37:g.168107021G>A	ENSP00000386840:p.Gly3040Glu	Somatic	0	34	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Actin-binding_Xin_repeat	p.G3040E	ENST00000409195.1	37	c.9119	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	3.031	-0.199563	0.06219	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02369	4.32;4.32;4.32	5.88	1.93	0.25924	.	0.588316	0.16808	N	0.198692	T	0.01940	0.0061	L	0.34521	1.04	0.30700	N	0.750397	B;B;B	0.20550	0.027;0.046;0.015	B;B;B	0.22601	0.018;0.04;0.015	T	0.43278	-0.9401	10	0.02654	T	1	-9.1549	4.373	0.11256	0.236:0.0:0.5031:0.2609	.	2865;2865;2818	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	3040;3040;2818;454	ENSP00000386840:G3040E;ENSP00000295237:G3040E;ENSP00000387255:G2818E	ENSP00000295237:G3040E	G	+	2	0	XIRP2	167815267	0.609000	0.26975	0.093000	0.20910	0.109000	0.19521	1.018000	0.30002	0.413000	0.25759	-0.259000	0.10710	GGA	-	NULL		0.318	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	G	NM_152381	-		168107021	+1	no_errors	ENST00000295237	ensembl	human	known	74_37	missense	SNP	0.768	A
GRID2IP	392862	genome.wustl.edu	37	7	6548863	6548863	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:6548863delC	ENST00000457091.2	-	12	1852	c.1853delG	c.(1852-1854)ggtfs	p.G618fs	GRID2IP_ENST00000435185.1_Frame_Shift_Del_p.G434fs|GRID2IP_ENST00000452113.1_Frame_Shift_Del_p.G427fs	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	618	Pro-rich.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GGAGGCCAGACCCCCCGAACA	0.711																																																	0								ENSG00000215045						8.0	12.0	11.0					7																	6548863		689	1589	2278	GRID2IP	SO:0001589	frameshift_variant	0				HGNC		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.1853delG	7.37:g.6548863delC	ENSP00000397351:p.Gly618fs	Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	24	14.29		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ	p.G618fs	ENST00000457091.2	37	c.1853	CCDS47537.1	7																																																																																			-	NULL		0.711	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	GRID2IP	protein_coding	OTTHUMT00000340534.1	C	XM_294249			6548863	-1	no_errors	ENST00000457091	ensembl	human	putative	74_37	frame_shift_del	DEL	0.932	-
PRR16	51334	genome.wustl.edu	37	5	120021756	120021756	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:120021756C>T	ENST00000407149.2	+	2	476	c.267C>T	c.(265-267)gcC>gcT	p.A89A	PRR16_ENST00000505123.1_Silent_p.A19A|PRR16_ENST00000379551.2_Silent_p.A66A|PRR16_ENST00000446965.1_Silent_p.A19A			Q569H4	LARGN_HUMAN	proline rich 16	89					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCACAACAGCCTCCAGCCTAG	0.527																																																	0								ENSG00000184838						117.0	107.0	110.0					5																	120021756		2203	4300	6503	PRR16	SO:0001819	synonymous_variant	0			-	HGNC	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.267C>T	5.37:g.120021756C>T		Somatic	0	37	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	14	50.00	D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A89	ENST00000407149.2	37	c.267		5																																																																																			-	NULL		0.527	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	protein_coding	OTTHUMT00000371059.1	C	NM_016644	-		120021756	+1	no_errors	ENST00000407149	ensembl	human	known	74_37	silent	SNP	0.583	T
CHRDL2	25884	genome.wustl.edu	37	11	74415582	74415582	+	Missense_Mutation	SNP	C	C	T	rs375274932		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:74415582C>T	ENST00000376332.3	-	7	1196	c.700G>A	c.(700-702)Gga>Aga	p.G234R	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.G234R	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	234					cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGCCTGCTCCCTTGGGTCTG	0.607																																																	0								ENSG00000054938						81.0	77.0	79.0					11																	74415582		2200	4293	6493	CHRDL2	SO:0001583	missense	0			-	HGNC	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.700G>A	11.37:g.74415582C>T	ENSP00000365510:p.Gly234Arg	Somatic	0	82	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	35	32.69	A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.G234R	ENST00000376332.3	37	c.700		11	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313099	0.60414	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000376323;ENST00000393519;ENST00000528789	T;T;T	0.63580	0.79;0.83;-0.05	5.54	3.67	0.42095	.	0.114105	0.64402	D	0.000013	T	0.70945	0.3282	M	0.75615	2.305	0.09310	N	0.999999	B;D;D	0.58970	0.003;0.984;0.975	B;P;P	0.58970	0.006;0.849;0.849	T	0.60944	-0.7162	10	0.29301	T	0.29	-5.6143	9.4287	0.38597	0.0:0.8294:0.0:0.1706	.	234;234;234	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	R	234;234;120;118;234	ENSP00000263671:G234R;ENSP00000365510:G234R;ENSP00000431380:G234R	ENSP00000263671:G234R	G	-	1	0	CHRDL2	74093230	0.877000	0.30153	0.124000	0.21820	0.754000	0.42855	3.891000	0.56227	1.342000	0.45619	0.462000	0.41574	GGA	-	NULL		0.607	CHRDL2-002	KNOWN	basic	protein_coding	CHRDL2	protein_coding	OTTHUMT00000385391.1	C		-		74415582	-1	no_errors	ENST00000263671	ensembl	human	known	74_37	missense	SNP	0.014	T
C9orf72	203228	genome.wustl.edu	37	9	27566980	27566980	+	Missense_Mutation	SNP	G	G	A	rs181815263		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:27566980G>A	ENST00000380003.3	-	2	202	c.139C>T	c.(139-141)Cca>Tca	p.P47S	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Missense_Mutation_p.P47S	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	47					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TCTGTCTTTGGAGCCCAAATG	0.413																																																	0								ENSG00000147894						108.0	98.0	102.0					9																	27566980		2203	4300	6503	C9orf72	SO:0001583	missense	0			-	HGNC	AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.139C>T	9.37:g.27566980G>A	ENSP00000369339:p.Pro47Ser	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P47S	ENST00000380003.3	37	c.139	CCDS6522.1	9	.	.	.	.	.	.	.	.	.	.	G	16.78	3.217552	0.58560	.	.	ENSG00000147894	ENST00000380003;ENST00000379997;ENST00000379995	T;T;T	0.42900	0.97;0.96;0.96	5.99	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	N	0.24115	0.695	0.80722	D	1	D;B	0.89917	1.0;0.112	D;B	0.83275	0.996;0.099	T	0.47045	-0.9147	9	.	.	.	.	15.241	0.73471	0.0669:0.0:0.9331:0.0	.	47;47	Q96LT7-2;Q96LT7	.;CI072_HUMAN	S	47	ENSP00000369339:P47S;ENSP00000369333:P47S;ENSP00000369331:P47S	.	P	-	1	0	C9orf72	27556980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	1.540000	0.49301	0.655000	0.94253	CCA	-	NULL		0.413	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	protein_coding	OTTHUMT00000051969.1	G	NM_018325	-		27566980	-1	no_errors	ENST00000380003	ensembl	human	known	74_37	missense	SNP	1.000	A
DPM2	8818	genome.wustl.edu	37	9	130698047	130698047	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:130698047G>A	ENST00000314392.8	-	4	872	c.209C>T	c.(208-210)tCc>tTc	p.S70F	RP11-203J24.8_ENST00000586374.1_RNA|RP11-203J24.8_ENST00000590283.1_RNA|RP11-203J24.8_ENST00000591408.1_RNA|RP11-203J24.8_ENST00000588890.1_RNA|RP11-203J24.8_ENST00000587978.1_RNA|RP11-203J24.8_ENST00000592240.1_RNA|RP11-203J24.8_ENST00000587355.1_RNA|RP11-203J24.8_ENST00000608805.1_RNA	NM_003863.3	NP_003854.1	O94777	DPM2_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit	70					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)|regulation of protein stability (GO:0031647)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of endoplasmic reticulum membrane (GO:0030176)|perinuclear region of cytoplasm (GO:0048471)	dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|enzyme regulator activity (GO:0030234)			lung(1)	1						CATCACATAGGAGATGAACAG	0.572																																																	0								ENSG00000136908						125.0	106.0	112.0					9																	130698047		2203	4300	6503	DPM2	SO:0001583	missense	0			-	HGNC	AB013361	CCDS6886.1	9q34.13	2013-02-26			ENSG00000136908	ENSG00000136908			3006	protein-coding gene	gene with protein product	"""DPM synthase complex subunit"""	603564				9724629	Standard	NM_003863		Approved	MGC21559, MGC111193	uc004bsv.2	O94777	OTTHUMG00000020725	ENST00000314392.8:c.209C>T	9.37:g.130698047G>A	ENSP00000322181:p.Ser70Phe	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q5XKK9|Q6FGH3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DPM2	p.S70F	ENST00000314392.8	37	c.209	CCDS6886.1	9	.	.	.	.	.	.	.	.	.	.	G	13.94	2.388201	0.42308	.	.	ENSG00000136908	ENST00000314392	T	0.76578	-1.03	5.26	1.3	0.21679	.	.	.	.	.	T	0.66446	0.2790	.	.	.	0.80722	D	1	B	0.22909	0.077	B	0.24394	0.053	T	0.58819	-0.7569	8	0.87932	D	0	.	4.9765	0.14144	0.2584:0.1524:0.5892:0.0	.	70	O94777	DPM2_HUMAN	F	70	ENSP00000322181:S70F	ENSP00000322181:S70F	S	-	2	0	DPM2	129737868	1.000000	0.71417	0.956000	0.39512	0.901000	0.52897	1.671000	0.37513	0.037000	0.15575	0.561000	0.74099	TCC	-	pfam_DPM2		0.572	DPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPM2	protein_coding	OTTHUMT00000054324.1	G	NM_003863	-		130698047	-1	no_errors	ENST00000314392	ensembl	human	known	74_37	missense	SNP	0.960	A
GRIN2D	2906	genome.wustl.edu	37	19	48919340	48919340	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:48919340C>T	ENST00000263269.3	+	7	1751	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	555					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CTTCTCCGTCCCCTTCGTGGA	0.657																																																	0								ENSG00000105464						107.0	89.0	95.0					19																	48919340		2203	4300	6503	GRIN2D	SO:0001583	missense	0			-	HGNC	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1663C>T	19.37:g.48919340C>T	ENSP00000263269:p.Pro555Ser	Somatic	0	112	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P555S	ENST00000263269.3	37	c.1663	CCDS12719.1	19	.	.	.	.	.	.	.	.	.	.	c	25.4	4.635352	0.87760	.	.	ENSG00000105464	ENST00000263269	T	0.42513	0.97	3.91	3.91	0.45181	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (1);	0.140450	0.48286	D	0.000181	T	0.69124	0.3076	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77370	-0.2613	10	0.87932	D	0	.	15.2148	0.73258	0.0:1.0:0.0:0.0	.	555	O15399	NMDE4_HUMAN	S	555	ENSP00000263269:P555S	ENSP00000263269:P555S	P	+	1	0	GRIN2D	53611152	1.000000	0.71417	0.932000	0.37286	0.820000	0.46376	7.505000	0.81655	2.200000	0.70718	0.556000	0.70494	CCC	-	pfam_SBP_bac_3,smart_Iontro_glu_rcpt		0.657	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	protein_coding	OTTHUMT00000466121.1	C		-		48919340	+1	no_errors	ENST00000263269	ensembl	human	known	74_37	missense	SNP	1.000	T
HRASLS5	117245	genome.wustl.edu	37	11	63235916	63235916	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:63235916C>A	ENST00000301790.4	-	4	556	c.397G>T	c.(397-399)Gga>Tga	p.G133*	HRASLS5_ENST00000540857.1_Nonsense_Mutation_p.G123*|HRASLS5_ENST00000539221.1_Nonsense_Mutation_p.G133*			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	133							transferase activity, transferring acyl groups (GO:0016746)	p.G133*(2)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATCAGGTCTCCAGGTCTGGGT	0.443																																																	2	Substitution - Nonsense(2)	lung(2)						ENSG00000168004						112.0	110.0	111.0					11																	63235916		2201	4298	6499	HRASLS5	SO:0001587	stop_gained	0			-	HGNC	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.397G>T	11.37:g.63235916C>A	ENSP00000301790:p.Gly133*	Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	20	38.89	B7X6T1|F5GZ87|F5H4Y9	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LRAT-like_dom	p.G133*	ENST00000301790.4	37	c.397	CCDS8044.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.737694	0.96865	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790	.	.	.	4.37	4.37	0.52481	.	0.251271	0.39083	N	0.001466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-0.2779	12.7263	0.57173	0.0:1.0:0.0:0.0	.	.	.	.	X	123;133;133	.	ENSP00000301790:G133X	G	-	1	0	HRASLS5	62992492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.715000	0.92844	0.561000	0.74099	GGA	-	NULL		0.443	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HRASLS5	protein_coding	OTTHUMT00000396375.1	C	NM_054108	-		63235916	-1	no_errors	ENST00000301790	ensembl	human	known	74_37	nonsense	SNP	1.000	A
SLC35D1	23169	genome.wustl.edu	37	1	67519563	67519563	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:67519563G>A	ENST00000235345.5	-	1	219	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SLC35D1_ENST00000506472.2_5'Flank	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	45					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						AAAGCCGGCGGCCAGCAGCTT	0.627																																																	0								ENSG00000116704						45.0	47.0	47.0					1																	67519563		2203	4300	6503	SLC35D1	SO:0001583	missense	0			-	HGNC	AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.134C>T	1.37:g.67519563G>A	ENSP00000235345:p.Ala45Val	Somatic	0	105	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	23	61.67	A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tpt_PEP_trans_dom	p.A45V	ENST00000235345.5	37	c.134	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519223	0.85495	.	.	ENSG00000116704	ENST00000235345	T	0.65364	-0.15	3.41	2.47	0.30058	.	0.000000	0.85682	D	0.000000	T	0.36468	0.0968	L	0.50993	1.605	0.80722	D	1	P	0.38167	0.621	B	0.38683	0.279	T	0.16247	-1.0409	10	0.18710	T	0.47	-5.7423	10.6353	0.45560	0.0:0.1966:0.8034:0.0	.	45	Q9NTN3	S35D1_HUMAN	V	45	ENSP00000235345:A45V	ENSP00000235345:A45V	A	-	2	0	SLC35D1	67292151	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	5.928000	0.70088	0.731000	0.32448	0.462000	0.41574	GCC	-	NULL		0.627	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	protein_coding	OTTHUMT00000025948.1	G	NM_015139	-		67519563	-1	no_errors	ENST00000235345	ensembl	human	known	74_37	missense	SNP	1.000	A
ABCA6	23460	genome.wustl.edu	37	17	67079022	67079022	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:67079022C>T	ENST00000284425.2	-	36	4782	c.4608G>A	c.(4606-4608)ggG>ggA	p.G1536G	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1536					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACCTTTCCTGCCCTGCAGCCT	0.443																																																	0								ENSG00000154262						195.0	198.0	197.0					17																	67079022		2203	4300	6503	ABCA6	SO:0001819	synonymous_variant	0			-	HGNC	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4608G>A	17.37:g.67079022C>T		Somatic	0	44	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1536	ENST00000284425.2	37	c.4608	CCDS11683.1	17																																																																																			-	NULL		0.443	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	protein_coding	OTTHUMT00000450463.1	C	NM_080284	-		67079022	-1	no_errors	ENST00000284425	ensembl	human	known	74_37	silent	SNP	0.049	T
QDPR	5860	genome.wustl.edu	37	4	17503362	17503362	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:17503362G>A	ENST00000281243.5	-	4	595	c.416C>T	c.(415-417)gCt>gTt	p.A139V	QDPR_ENST00000428702.2_Missense_Mutation_p.A108V|QDPR_ENST00000513615.1_Missense_Mutation_p.A139V|QDPR_ENST00000508623.1_Missense_Mutation_p.A139V	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	139					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|dihydrobiopterin metabolic process (GO:0051066)|L-phenylalanine catabolic process (GO:0006559)|liver development (GO:0001889)|response to aluminum ion (GO:0010044)|response to glucagon (GO:0033762)|response to lead ion (GO:0010288)|small molecule metabolic process (GO:0044281)|tetrahydrobiopterin biosynthetic process (GO:0006729)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	6,7-dihydropteridine reductase activity (GO:0004155)|electron carrier activity (GO:0009055)|NADH binding (GO:0070404)|NADPH binding (GO:0070402)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATCCAGGGCAGCCTTTGCGCC	0.557																																																	0								ENSG00000151552						82.0	71.0	75.0					4																	17503362		2203	4300	6503	QDPR	SO:0001583	missense	0			-	HGNC	AB053170	CCDS3421.1	4p15.31	2014-04-01			ENSG00000151552	ENSG00000151552	1.5.1.34	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	9752	protein-coding gene	gene with protein product	"""6,7-dihydropteridine reductase"", ""short chain dehydrogenase/reductase family 33C, member 1"""	612676				19027726	Standard	NM_000320		Approved	DHPR, PKU2, SDR33C1	uc003gpd.3	P09417	OTTHUMG00000128537	ENST00000281243.5:c.416C>T	4.37:g.17503362G>A	ENSP00000281243:p.Ala139Val	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	A8K158|B3KW71|Q53F52|Q9H3M5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH_sc/Rdtase_SDR	p.A139V	ENST00000281243.5	37	c.416	CCDS3421.1	4	.	.	.	.	.	.	.	.	.	.	G	28.2	4.899687	0.91962	.	.	ENSG00000151552	ENST00000513615;ENST00000281243;ENST00000428702;ENST00000508623	D;D;D;D	0.95482	-3.72;-2.62;-3.72;-3.72	5.65	5.65	0.86999	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.096930	0.64402	D	0.000001	D	0.95639	0.8582	M	0.79011	2.435	0.80722	D	1	P;D	0.56746	0.906;0.977	P;B	0.44946	0.465;0.323	D	0.95290	0.8394	10	0.44086	T	0.13	-15.808	18.5072	0.90901	0.0:0.0:1.0:0.0	.	108;139	B3KW71;P09417	.;DHPR_HUMAN	V	139;139;108;139	ENSP00000422759:A139V;ENSP00000281243:A139V;ENSP00000390944:A108V;ENSP00000426377:A139V	ENSP00000281243:A139V	A	-	2	0	QDPR	17112460	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.518000	0.90559	2.662000	0.90505	0.563000	0.77884	GCT	-	pfam_DH_sc/Rdtase_SDR		0.557	QDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QDPR	protein_coding	OTTHUMT00000250372.1	G	NM_000320	-		17503362	-1	no_errors	ENST00000281243	ensembl	human	known	74_37	missense	SNP	1.000	A
FAM179A	165186	genome.wustl.edu	37	2	29274679	29274679	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:29274679C>T	ENST00000379558.4	+	20	3131	c.2780C>T	c.(2779-2781)cCc>cTc	p.P927L	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.P872L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	927										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CATGTCCTTCCCATCCTCTGG	0.622																																																	0								ENSG00000189350						17.0	19.0	19.0					2																	29274679		2061	4202	6263	FAM179A	SO:0001583	missense	0			-	HGNC	AK125239, AK125744	CCDS1769.2	2p23.2	2008-10-30			ENSG00000189350	ENSG00000189350			33715	protein-coding gene	gene with protein product						16344560	Standard	NM_199280		Approved	FLJ43249, LOC165186	uc010ezl.3	Q6ZUX3	OTTHUMG00000128432	ENST00000379558.4:c.2780C>T	2.37:g.29274679C>T	ENSP00000368876:p.Pro927Leu	Somatic	0	182	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	58	28.92	Q6ZUF5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CLASP_N_dom,superfamily_ARM-type_fold	p.P927L	ENST00000379558.4	37	c.2780	CCDS1769.2	2	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292100	0.80914	.	.	ENSG00000189350	ENST00000379558;ENST00000403861	T;T	0.69685	-0.42;-0.42	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.090134	0.49305	D	0.000156	T	0.79913	0.4528	L	0.58810	1.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.76377	-0.2981	10	0.34782	T	0.22	.	19.3719	0.94492	0.0:1.0:0.0:0.0	.	872;927	F8W8E4;Q6ZUX3	.;F179A_HUMAN	L	927;872	ENSP00000368876:P927L;ENSP00000384699:P872L	ENSP00000368876:P927L	P	+	2	0	FAM179A	29128183	0.997000	0.39634	0.891000	0.34965	0.419000	0.31324	5.946000	0.70234	2.698000	0.92095	0.650000	0.86243	CCC	-	superfamily_ARM-type_fold		0.622	FAM179A-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM179A	protein_coding	OTTHUMT00000317848.4	C	NM_199280	-		29274679	+1	no_errors	ENST00000379558	ensembl	human	known	74_37	missense	SNP	0.998	T
SERPINA4	5267	genome.wustl.edu	37	14	95034521	95034521	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:95034521T>C	ENST00000557004.1	+	4	1400	c.979T>C	c.(979-981)Tat>Cat	p.Y327H	SERPINA4_ENST00000298841.5_Missense_Mutation_p.Y327H|SERPINA4_ENST00000555095.1_Missense_Mutation_p.Y327H|SERPINA5_ENST00000553780.1_Intron			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	327					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TTCTGGCTCCTATGTATTAGA	0.443																																																	0								ENSG00000100665						118.0	119.0	119.0					14																	95034521		2203	4300	6503	SERPINA4	SO:0001583	missense	0			-	HGNC	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.979T>C	14.37:g.95034521T>C	ENSP00000450838:p.Tyr327His	Somatic	0	79	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	39	13.33	Q53XB5|Q86TR9|Q96BZ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.Y327H	ENST00000557004.1	37	c.979	CCDS9927.1	14	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987864	0.74589	.	.	ENSG00000100665	ENST00000557004;ENST00000555095;ENST00000298841	D;D;D	0.85484	-1.99;-1.99;-1.99	5.45	5.45	0.79879	Serpin domain (3);	0.600069	0.14669	N	0.305454	D	0.91815	0.7410	M	0.86097	2.795	0.22745	N	0.998786	D;D	0.69078	0.997;0.985	D;D	0.67382	0.951;0.94	D	0.85048	0.0927	10	0.87932	D	0	.	9.2322	0.37444	0.0:0.0807:0.0:0.9193	.	327;327	B2R815;P29622	.;KAIN_HUMAN	H	327	ENSP00000450838:Y327H;ENSP00000451172:Y327H;ENSP00000298841:Y327H	ENSP00000298841:Y327H	Y	+	1	0	SERPINA4	94104274	0.001000	0.12720	0.058000	0.19502	0.656000	0.38851	1.054000	0.30455	2.067000	0.61834	0.533000	0.62120	TAT	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.443	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINA4	protein_coding	OTTHUMT00000410718.1	T	NM_006215	-		95034521	+1	no_errors	ENST00000298841	ensembl	human	known	74_37	missense	SNP	0.037	C
IDUA	3425	genome.wustl.edu	37	4	981705	981705	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:981705G>A	ENST00000247933.4	+	2	355	c.267G>A	c.(265-267)cgG>cgA	p.R89R	SLC26A1_ENST00000361661.2_3'UTR|SLC26A1_ENST00000513138.1_5'Flank|IDUA_ENST00000453894.1_Intron|SLC26A1_ENST00000398520.2_Intron|IDUA_ENST00000509744.1_3'UTR	NM_000203.3	NP_000194.2	P35475	IDUA_HUMAN	iduronidase, alpha-L-	89			R -> Q (in MPS1S; in Japanese 21% of alleles). {ECO:0000269|PubMed:12559846, ECO:0000269|PubMed:8213840}.|R -> W (in MPS1S). {ECO:0000269|PubMed:21394825, ECO:0000269|PubMed:7550242}.		carbohydrate metabolic process (GO:0005975)|cell morphogenesis (GO:0000902)|chemical homeostasis (GO:0048878)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate catabolic process (GO:0030209)|disaccharide metabolic process (GO:0005984)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|limb morphogenesis (GO:0035108)|lysosome organization (GO:0007040)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)	coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	L-iduronidase activity (GO:0003940)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGCAGGTCCGGACCCACTGGC	0.677																																																	0								ENSG00000127415						28.0	22.0	24.0					4																	981705		2188	4288	6476	IDUA	SO:0001819	synonymous_variant	0			-	HGNC	M74715	CCDS3343.1	4p16.3	2012-10-02			ENSG00000127415	ENSG00000127415	3.2.1.76		5391	protein-coding gene	gene with protein product		252800				1832239	Standard	NM_000203		Approved	MPS1	uc003gby.3	P35475	OTTHUMG00000088901	ENST00000247933.4:c.267G>A	4.37:g.981705G>A		Somatic	0	30	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	7	41.67	B3KWK6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39	p.R89	ENST00000247933.4	37	c.267	CCDS3343.1	4																																																																																			-	pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF		0.677	IDUA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IDUA	protein_coding	OTTHUMT00000201812.1	G	NM_000203	-		981705	+1	no_errors	ENST00000247933	ensembl	human	known	74_37	silent	SNP	1.000	A
BBX	56987	genome.wustl.edu	37	3	107474465	107474465	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:107474465G>A	ENST00000325805.8	+	10	1133	c.846G>A	c.(844-846)caG>caA	p.Q282Q	BBX_ENST00000406780.1_Silent_p.Q282Q|BBX_ENST00000402543.1_Silent_p.Q282Q|BBX_ENST00000416476.2_Silent_p.Q282Q|BBX_ENST00000415149.2_Silent_p.Q282Q			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	282					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			ACACTTCGCAGTTGGGTGGTG	0.388																																																	0								ENSG00000114439						121.0	130.0	127.0					3																	107474465		2203	4300	6503	BBX	SO:0001819	synonymous_variant	0			-	HGNC	AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.846G>A	3.37:g.107474465G>A		Somatic	0	61	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	48	27.27	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	p.Q282	ENST00000325805.8	37	c.846	CCDS46881.1	3																																																																																			-	pfam_TF_HMG_box_BBX_DUF2028		0.388	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	protein_coding	OTTHUMT00000317820.1	G	NM_020235	-		107474465	+1	no_errors	ENST00000325805	ensembl	human	known	74_37	silent	SNP	0.972	A
MFN1	55669	genome.wustl.edu	37	3	179107853	179107853	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:179107853G>A	ENST00000471841.1	+	17	2200	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	MFN1_ENST00000280653.7_Missense_Mutation_p.E581K|MFN1_ENST00000263969.5_Missense_Mutation_p.E692K	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	692					mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			AAAACAGCTGGAAGAAGAAAT	0.313																																																	0								ENSG00000171109						61.0	64.0	63.0					3																	179107853		2203	4298	6501	MFN1	SO:0001583	missense	0			-	HGNC	AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.2074G>A	3.37:g.179107853G>A	ENSP00000420617:p.Glu692Lys	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	55	14.06	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase	p.E692K	ENST00000471841.1	37	c.2074	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308198	0.81247	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000263969;ENST00000474903	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.97	5.1	0.69264	Fzo/mitofusin HR2 domain (1);	0.130270	0.64402	N	0.000001	D	0.96543	0.8872	M	0.66506	2.035	0.28069	N	0.932641	B;P;P	0.48998	0.296;0.918;0.918	B;P;P	0.52386	0.184;0.697;0.627	D	0.92730	0.6199	10	0.31617	T	0.26	-23.3151	15.2002	0.73130	0.0673:0.0:0.9327:0.0	.	581;720;692	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	K	692;581;692;444	ENSP00000420617:E692K;ENSP00000280653:E581K;ENSP00000263969:E692K;ENSP00000419926:E444K	ENSP00000263969:E692K	E	+	1	0	MFN1	180590547	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.278000	0.78587	1.529000	0.49120	0.655000	0.94253	GAA	-	pfam_Fzo/mitofusin_HR2		0.313	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	protein_coding	OTTHUMT00000348654.2	G	NM_017927	-		179107853	+1	no_errors	ENST00000263969	ensembl	human	known	74_37	missense	SNP	1.000	A
TMEM259	91304	genome.wustl.edu	37	19	1014286	1014286	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:1014286G>A	ENST00000356663.3	-	2	533	c.412C>T	c.(412-414)Ccg>Tcg	p.P138S	TMEM259_ENST00000333175.5_Missense_Mutation_p.P138S	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	138						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GCCAGGCCCGGGAAGCTCCCG	0.637																																																	0								ENSG00000182087						38.0	40.0	40.0					19																	1014286		2200	4300	6500	TMEM259	SO:0001583	missense	0			-	HGNC	BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.412C>T	19.37:g.1014286G>A	ENSP00000349087:p.Pro138Ser	Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	O60392|Q8NF79|Q96H30	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Membralin	p.P138S	ENST00000356663.3	37	c.412	CCDS32862.1	19	.	.	.	.	.	.	.	.	.	.	G	1.016	-0.686329	0.03328	.	.	ENSG00000182087	ENST00000356663;ENST00000333175	.	.	.	4.06	1.84	0.25277	.	0.554908	0.17590	N	0.168804	T	0.28499	0.0705	L	0.43152	1.355	0.26014	N	0.981952	B;B	0.19817	0.017;0.039	B;B	0.18871	0.005;0.023	T	0.26224	-1.0109	9	0.09843	T	0.71	-5.8615	7.7419	0.28845	0.0945:0.1721:0.7334:0.0	.	138;138	Q4ZIN3-2;Q4ZIN3	.;MBRL_HUMAN	S	138	.	ENSP00000331423:P138S	P	-	1	0	C19orf6	965286	1.000000	0.71417	0.926000	0.36857	0.062000	0.15995	3.616000	0.54174	0.352000	0.24053	0.462000	0.41574	CCG	-	pfam_Membralin		0.637	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM259	protein_coding	OTTHUMT00000458236.1	G	NM_033420	-		1014286	-1	no_errors	ENST00000356663	ensembl	human	known	74_37	missense	SNP	0.997	A
KDM5C	8242	genome.wustl.edu	37	X	53228286	53228286	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:53228286G>T	ENST00000375401.3	-	15	2648	c.2116C>A	c.(2116-2118)Cag>Aag	p.Q706K	KDM5C_ENST00000452825.3_Missense_Mutation_p.Q639K|KDM5C_ENST00000375383.3_Missense_Mutation_p.Q665K|KDM5C_ENST00000404049.3_Missense_Mutation_p.Q705K|KDM5C_ENST00000375379.3_Missense_Mutation_p.Q706K|KDM5C_ENST00000465402.1_5'Flank	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	706					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTGATACACTGGCGCTCATCA	0.517			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012						169.0	135.0	146.0					X																	53228286		2203	4300	6503	KDM5C	SO:0001583	missense	0			-	HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2116C>A	X.37:g.53228286G>T	ENSP00000364550:p.Gln706Lys	Somatic	0	27	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.Q706K	ENST00000375401.3	37	c.2116	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	g	23.8	4.456101	0.84209	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.87571	-2.27;-1.98;-1.98;-1.98;-2.12	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.91626	0.7354	M	0.79123	2.44	0.51012	D	0.999906	P;P;P	0.52170	0.923;0.874;0.951	P;P;P	0.56865	0.741;0.651;0.808	D	0.92849	0.6295	10	0.87932	D	0	-8.4486	14.2463	0.65990	0.0:0.0:1.0:0.0	.	639;705;706	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	K	639;706;705;706;665	ENSP00000445176:Q639K;ENSP00000364550:Q706K;ENSP00000385394:Q705K;ENSP00000364528:Q706K;ENSP00000364532:Q665K	ENSP00000364528:Q706K	Q	-	1	0	KDM5C	53245011	1.000000	0.71417	0.999000	0.59377	0.927000	0.56198	9.735000	0.98825	1.935000	0.56089	0.519000	0.50382	CAG	-	NULL		0.517	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	G	NM_004187	-		53228286	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	SNP	1.000	T
ABCC12	94160	genome.wustl.edu	37	16	48162475	48162475	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:48162475C>T	ENST00000311303.3	-	9	1755	c.1410G>A	c.(1408-1410)gaG>gaA	p.E470E	ABCC12_ENST00000416054.1_Silent_p.E470E|ABCC12_ENST00000448542.1_Silent_p.E470E	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	470	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CACTGTATGCCTCTGACCTCT	0.502																																																	0								ENSG00000140798						242.0	192.0	209.0					16																	48162475		2201	4300	6501	ABCC12	SO:0001819	synonymous_variant	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1410G>A	16.37:g.48162475C>T		Somatic	0	103	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.E470	ENST00000311303.3	37	c.1410	CCDS10730.1	16																																																																																			-	superfamily_P-loop_NTPase,pfscan_ABC_transporter-like		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	C	NM_033226	-		48162475	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	silent	SNP	0.034	T
CNTNAP4	85445	genome.wustl.edu	37	16	76573705	76573705	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr16:76573705C>T	ENST00000476707.1	+	19	3458	c.3319C>T	c.(3319-3321)Cac>Tac	p.H1107Y	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.H1031Y|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.H1055Y|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.H1103Y			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1104	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGGACAACTTCACCACATAAT	0.363																																																	0								ENSG00000152910						97.0	100.0	99.0					16																	76573705		2084	4270	6354	CNTNAP4	SO:0001583	missense	0			-	HGNC	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.3319C>T	16.37:g.76573705C>T	ENSP00000417628:p.His1107Tyr	Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	19	32.14	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.H1103Y	ENST00000476707.1	37	c.3307		16	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968780	0.53614	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17	5.03	5.03	0.67393	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.43747	D	0.000540	D	0.91653	0.7362	.	.	.	0.52501	D	0.999952	D;P;B	0.54207	0.965;0.828;0.186	P;P;B	0.54924	0.764;0.58;0.158	D	0.92282	0.5834	9	0.66056	D	0.02	.	18.9171	0.92510	0.0:1.0:0.0:0.0	.	1031;1107;1104	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	Y	1103;1055;1031;1107	ENSP00000306893:H1103Y;ENSP00000439733:H1055Y;ENSP00000418741:H1031Y;ENSP00000417628:H1107Y	ENSP00000306893:H1103Y	H	+	1	0	CNTNAP4	75131206	1.000000	0.71417	1.000000	0.80357	0.612000	0.37316	7.201000	0.77847	2.771000	0.95319	0.650000	0.86243	CAC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.363	CNTNAP4-005	PUTATIVE	basic	protein_coding	CNTNAP4	protein_coding	OTTHUMT00000348216.1	C	NM_033401	-		76573705	+1	no_errors	ENST00000307431	ensembl	human	known	74_37	missense	SNP	1.000	T
CYP4Z1	199974	genome.wustl.edu	37	1	47534386	47534386	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:47534386C>T	ENST00000334194.3	+	2	273	c.270C>T	c.(268-270)ttC>ttT	p.F90F		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	90						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTACGATGTTCTTCAGTGTCC	0.448																																																	0								ENSG00000186160						185.0	162.0	170.0					1																	47534386		2203	4300	6503	CYP4Z1	SO:0001819	synonymous_variant	0			-	HGNC	AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.270C>T	1.37:g.47534386C>T		Somatic	0	161	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	82	20.39	Q5VVE4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.F90	ENST00000334194.3	37	c.270	CCDS545.1	1																																																																																			-	pfam_Cyt_P450,superfamily_Cyt_P450		0.448	CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4Z1	protein_coding	OTTHUMT00000022020.1	C	NM_178134	-		47534386	+1	no_errors	ENST00000334194	ensembl	human	known	74_37	silent	SNP	0.007	T
NLRP12	91662	genome.wustl.edu	37	19	54313970	54313970	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:54313970C>T	ENST00000324134.6	-	3	1111	c.943G>A	c.(943-945)Gag>Aag	p.E315K	NLRP12_ENST00000351894.4_Missense_Mutation_p.E315K|NLRP12_ENST00000391773.1_Missense_Mutation_p.E315K|NLRP12_ENST00000391772.1_Missense_Mutation_p.E315K|NLRP12_ENST00000391775.3_Missense_Mutation_p.E315K|NLRP12_ENST00000345770.5_Missense_Mutation_p.E315K|NLRP12_ENST00000354278.3_Missense_Mutation_p.E315K|NLRP12_ENST00000535162.1_Missense_Mutation_p.E315K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	315	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CGTTTCTCCTCCCAGCAGAGG	0.567																																																	0								ENSG00000142405						43.0	46.0	45.0					19																	54313970		2203	4300	6503	NLRP12	SO:0001583	missense	0			-	HGNC	AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.943G>A	19.37:g.54313970C>T	ENSP00000319377:p.Glu315Lys	Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	17	32.00	A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E315K	ENST00000324134.6	37	c.943	CCDS12864.1	19	.	.	.	.	.	.	.	.	.	.	C	5.669	0.307991	0.10733	.	.	ENSG00000142405	ENST00000324134;ENST00000535162;ENST00000351894;ENST00000354278;ENST00000391775;ENST00000391773;ENST00000345770;ENST00000391772	T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	4.47	1.86	0.25419	NACHT nucleoside triphosphatase (1);	0.376195	0.19820	N	0.105322	T	0.54143	0.1840	N	0.11756	0.17	0.80722	D	1	B;B;B;B	0.25772	0.134;0.065;0.003;0.036	B;B;B;B	0.23852	0.033;0.033;0.008;0.049	T	0.39683	-0.9602	10	0.21540	T	0.41	.	5.8769	0.18834	0.0:0.6394:0.2124:0.1482	.	315;315;315;315	F2Z321;A8K407;A8MTQ2;P59046	.;.;.;NAL12_HUMAN	K	315	ENSP00000319377:E315K;ENSP00000438030:E315K;ENSP00000340473:E315K;ENSP00000346231:E315K;ENSP00000375655:E315K;ENSP00000375653:E315K;ENSP00000375652:E315K	ENSP00000319377:E315K	E	-	1	0	NLRP12	59005782	0.000000	0.05858	0.995000	0.50966	0.414000	0.31173	-0.317000	0.08060	1.005000	0.39183	0.306000	0.20318	GAG	-	superfamily_P-loop_NTPase,pfscan_NACHT_NTPase		0.567	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	protein_coding	OTTHUMT00000134340.1	C	NM_144687	-		54313970	-1	no_errors	ENST00000324134	ensembl	human	known	74_37	missense	SNP	0.995	T
RPL17	6139	genome.wustl.edu	37	18	47015764	47015764	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:47015764G>A	ENST00000418495.1	-	6	812	c.472C>T	c.(472-474)Cct>Tct	p.P158S	C18orf32_ENST00000318240.3_5'Flank|RPL17-C18orf32_ENST00000332968.6_Missense_Mutation_p.P120S|MIR1539_ENST00000581232.1_RNA|RPL17_ENST00000579408.1_Missense_Mutation_p.P158S|SNORD58C_ENST00000365223.1_RNA|MIR1539_ENST00000410758.1_RNA|RPL17-C18orf32_ENST00000584895.1_Missense_Mutation_p.P158S|C18orf32_ENST00000579820.1_5'Flank|C18orf32_ENST00000582392.1_5'Flank|RPL17_ENST00000579248.1_Missense_Mutation_p.P158S|SNORD58A_ENST00000383875.1_RNA|RPL17_ENST00000580261.1_Missense_Mutation_p.P158S|RPL17_ENST00000580210.1_Missense_Mutation_p.P148S|SNORD58B_ENST00000607313.1_RNA|RPL17_ENST00000581091.1_5'UTR|RPL17_ENST00000581373.1_Missense_Mutation_p.P120S	NM_000985.4|NM_001199340.1	NP_000976.1|NP_001186269.1	P18621	RL17_HUMAN	ribosomal protein L17	158					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|lung(3)	5						TCTGGTTTAGGAACAATCTGT	0.453																																																	0								ENSG00000215472						180.0	169.0	172.0					18																	47015764		1847	4088	5935	RPL17-C18orf32	SO:0001583	missense	0			-	HGNC	AB007174	CCDS45865.1, CCDS56070.1	18q21	2011-04-06				ENSG00000265681		"""L ribosomal proteins"""	10307	protein-coding gene	gene with protein product		603661				2402465, 9582194	Standard	NM_000985		Approved	rpL23, L17		P18621		ENST00000418495.1:c.472C>T	18.37:g.47015764G>A	ENSP00000397798:p.Pro158Ser	Somatic	0	140	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	62	17.33	B2R4H3|B4E3C2|B5ME31|J3QL51|Q3KQW2|Q6NZ54|Q7M4M5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribosomal_L22,superfamily_Ribosomal_L22,tigrfam_Ribosomal_L22/L17_euk/arc	p.P158S	ENST00000418495.1	37	c.472	CCDS45865.1	18	.	.	.	.	.	.	.	.	.	.	G	18.13	3.555578	0.65425	.	.	ENSG00000215472	ENST00000418495;ENST00000441578;ENST00000332968	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	T	0.73118	0.3546	M	0.87547	2.89	0.58432	D	0.999999	B;P	0.36282	0.303;0.546	B;B	0.37239	0.128;0.244	T	0.76321	-0.3002	8	0.38643	T	0.18	.	18.4295	0.90620	0.0:0.0:1.0:0.0	.	158;120	P18621;B4E3C2	RL17_HUMAN;.	S	158;158;120	.	ENSP00000352143:P120S	P	-	1	0	RPL17	45269762	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.308000	0.96247	2.437000	0.82529	0.650000	0.86243	CCT	-	NULL		0.453	RPL17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL17-C18orf32	protein_coding	OTTHUMT00000447589.2	G	NM_000985	-		47015764	-1	no_errors	ENST00000584895	ensembl	human	known	74_37	missense	SNP	1.000	A
PLXNB1	5364	genome.wustl.edu	37	3	48461037	48461037	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:48461037G>A	ENST00000358536.4	-	11	2927	c.2658C>T	c.(2656-2658)atC>atT	p.I886I	PLXNB1_ENST00000358459.4_Silent_p.I703I|PLXNB1_ENST00000456774.1_Silent_p.I703I|PLXNB1_ENST00000296440.6_Silent_p.I886I|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	886					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGACGGGAGGATGAGGGGGG	0.672																																																	0								ENSG00000164050						19.0	24.0	22.0					3																	48461037		2173	4248	6421	PLXNB1	SO:0001819	synonymous_variant	0			-	HGNC	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.2658C>T	3.37:g.48461037G>A		Somatic	0	10	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	9	59.09	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.S692F	ENST00000358536.4	37	c.2075	CCDS2765.1	3																																																																																			-	NULL		0.672	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	protein_coding	OTTHUMT00000344454.1	G	NM_002673	-		48461037	-1	no_errors	ENST00000449094	ensembl	human	known	74_37	missense	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38862525	38862525	+	Nonsense_Mutation	SNP	C	C	T	rs149070832	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:38862525C>T	ENST00000359357.3	+	57	8235	c.7981C>T	c.(7981-7983)Cga>Tga	p.R2661*	DNAH8_ENST00000449981.2_Nonsense_Mutation_p.R2878*|DNAH8_ENST00000441566.1_Nonsense_Mutation_p.R2625*			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2661	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTTCAATCTTCGAGATCTTTC	0.393																																																	0								ENSG00000124721	C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	81.0	78.0	79.0		8632	5.3	1.0	6	dbSNP_134	79	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	DNAH8	NM_001206927.1		0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231		2878/4708	38862525	3,13003	2203	4300	6503	DNAH8	SO:0001587	stop_gained	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.7981C>T	6.37:g.38862525C>T	ENSP00000352312:p.Arg2661*	Somatic	0	65	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.R2661*	ENST00000359357.3	37	c.7981		6	.	.	.	.	.	.	.	.	.	.	C	51	17.689154	0.99891	2.27E-4	2.33E-4	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.9296	0.63986	0.152:0.848:0.0:0.0	.	.	.	.	X	2866;2866;2661;2625	.	ENSP00000333363:R2866X	R	+	1	2	DNAH8	38970503	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.046000	0.49846	2.469000	0.83416	0.557000	0.71058	CGA	-	superfamily_P-loop_NTPase		0.393	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	C	NM_001206927	rs149070832		38862525	+1	no_errors	ENST00000359357	ensembl	human	known	74_37	nonsense	SNP	1.000	T
PROK2	60675	genome.wustl.edu	37	3	71830639	71830639	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:71830639G>A	ENST00000295619.3	-	2	209	c.201C>T	c.(199-201)agC>agT	p.S67S	PROK2_ENST00000353065.3_Silent_p.S67S	NM_001126128.1	NP_001119600.1	Q9HC23	PROK2_HUMAN	prokineticin 2	67					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|chemotaxis (GO:0006935)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of smooth muscle contraction (GO:0045987)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	G-protein coupled receptor binding (GO:0001664)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306)		GTGGATGGCAGCTGTCTCCCA	0.468																																																	0								ENSG00000163421						120.0	110.0	114.0					3																	71830639		2203	4300	6503	PROK2	SO:0001819	synonymous_variant	0			-	HGNC	AF333025	CCDS2916.1, CCDS46868.1	3p21.1	2013-02-28			ENSG00000163421	ENSG00000163421		"""Endogenous ligands"""	18455	protein-coding gene	gene with protein product	"""protein Bv8 homolog"""	607002				11054548, 11259612	Standard	NM_021935		Approved	PK2, BV8, MIT1, KAL4	uc003dpa.4	Q9HC23	OTTHUMG00000158809	ENST00000295619.3:c.201C>T	3.37:g.71830639G>A		Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	29	43.14	Q53Z79|Q6ISR0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prokineticin_domain	p.S67	ENST00000295619.3	37	c.201	CCDS46868.1	3																																																																																			-	pfam_Prokineticin_domain		0.468	PROK2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PROK2	protein_coding	OTTHUMT00000352302.1	G	NM_001126128	-		71830639	-1	no_errors	ENST00000295619	ensembl	human	known	74_37	silent	SNP	1.000	A
MYCL	4610	genome.wustl.edu	37	1	40366681	40366681	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:40366681G>A	ENST00000372816.2	-	1	873	c.426C>T	c.(424-426)ccC>ccT	p.P142P	MYCL_ENST00000429311.1_Silent_p.P142P|MYCL_ENST00000372815.1_Silent_p.P172P|RP1-118J21.5_ENST00000418255.1_RNA|MYCL_ENST00000397332.2_Silent_p.P172P			P12524	MYCL_HUMAN	v-myc avian myelocytomatosis viral oncogene lung carcinoma derived homolog	142						nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGGGGGCGGCGGGCGCCGGGT	0.751																																																	0								ENSG00000116990						3.0	4.0	4.0					1																	40366681		1710	3639	5349	MYCL	SO:0001819	synonymous_variant	0			-	HGNC		CCDS30682.1, CCDS44117.1, CCDS44117.2, CCDS53300.1	1p34.3	2013-07-09	2013-07-09	2013-07-09	ENSG00000116990	ENSG00000116990		"""Basic helix-loop-helix proteins"""	7555	protein-coding gene	gene with protein product	"""l-myc protein"", ""myc-related gene from lung cancer"", ""oncogene lmyc"""	164850	"""v-myc avian myelocytomatosis viral oncogene homolog 1, lung carcinoma derived"""	MYCL1		8978772	Standard	NM_001033082		Approved	LMYC, bHLHe38	uc001cer.2	P12524	OTTHUMG00000009243	ENST00000372816.2:c.426C>T	1.37:g.40366681G>A		Somatic	0	85	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	31	42.59	A2A2C9|B4DJH2|Q14897|Q5QPL0|Q5QPL1|Q9NUE9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_Myc_N,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.P142	ENST00000372816.2	37	c.426	CCDS30682.1	1																																																																																			-	NULL		0.751	MYCL-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYCL	protein_coding	OTTHUMT00000277004.1	G	NM_001033082	-		40366681	-1	no_errors	ENST00000372816	ensembl	human	known	74_37	silent	SNP	1.000	A
SLC12A7	10723	genome.wustl.edu	37	5	1075560	1075560	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:1075560G>A	ENST00000264930.5	-	15	1936	c.1893C>T	c.(1891-1893)ttC>ttT	p.F631F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	631					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	AGGAGCAGATGAACATCAGCG	0.637																																																	0								ENSG00000113504						74.0	65.0	68.0					5																	1075560		2201	4300	6501	SLC12A7	SO:0001819	synonymous_variant	0			-	HGNC	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1893C>T	5.37:g.1075560G>A		Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	46	9.80	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.F631	ENST00000264930.5	37	c.1893	CCDS34129.1	5																																																																																			-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS		0.637	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	protein_coding	OTTHUMT00000366446.2	G	NM_006598	-		1075560	-1	no_errors	ENST00000264930	ensembl	human	known	74_37	silent	SNP	1.000	A
ZNF521	25925	genome.wustl.edu	37	18	22806847	22806847	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:22806847G>A	ENST00000361524.3	-	4	1183	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Silent_p.S125S|ZNF521_ENST00000538137.2_Silent_p.S345S	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	345					cell differentiation (GO:0030154)|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)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CCGTGACCAGGGAAGGGCTGT	0.547			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0								ENSG00000198795						102.0	92.0	95.0					18																	22806847		2203	4300	6503	ZNF521	SO:0001819	synonymous_variant	0			-	HGNC	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1035C>T	18.37:g.22806847G>A		Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	21	22.22	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S345	ENST00000361524.3	37	c.1035	CCDS32806.1	18																																																																																			-	NULL		0.547	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	protein_coding	OTTHUMT00000446781.2	G	NM_015461	-		22806847	-1	no_errors	ENST00000361524	ensembl	human	known	74_37	silent	SNP	0.992	A
CECR2	27443	genome.wustl.edu	37	22	17976556	17976556	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:17976556G>A	ENST00000400573.5	+	3	284	c.277G>A	c.(277-279)Gag>Aag	p.E93K	CECR2_ENST00000497534.1_3'UTR|CECR2_ENST00000400585.2_5'UTR|CECR2_ENST00000342247.5_Missense_Mutation_p.E73K|CECR2_ENST00000262608.8_Missense_Mutation_p.E74K			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	115					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		CACACGGGTGGAGATCCTGCA	0.542																																																	0								ENSG00000099954						97.0	101.0	100.0					22																	17976556		2039	4189	6228	CECR2	SO:0001583	missense	0			-	HGNC	AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400573.5:c.277G>A	22.37:g.17976556G>A	ENSP00000383417:p.Glu93Lys	Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	37	26.00	A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E93K	ENST00000400573.5	37	c.277		22	.	.	.	.	.	.	.	.	.	.	G	17.89	3.498627	0.64298	.	.	ENSG00000099954	ENST00000342247;ENST00000400573;ENST00000262608	T;T;T	0.46819	0.86;0.86;0.86	5.34	3.12	0.35913	.	0.000000	0.36234	U	0.002709	T	0.35595	0.0937	L	0.52126	1.63	0.45528	D	0.998482	P	0.48294	0.908	B	0.34138	0.176	T	0.40553	-0.9557	10	0.66056	D	0.02	-6.427	10.7108	0.45982	0.0718:0.1319:0.7963:0.0	.	115	Q9BXF3	CECR2_HUMAN	K	73;93;74	ENSP00000341219:E73K;ENSP00000383417:E93K;ENSP00000262608:E74K	ENSP00000262608:E74K	E	+	1	0	CECR2	16356556	1.000000	0.71417	0.968000	0.41197	0.078000	0.17371	7.315000	0.78998	1.393000	0.46605	0.650000	0.86243	GAG	-	NULL		0.542	CECR2-001	NOVEL	basic|appris_candidate_longest	protein_coding	CECR2	protein_coding	OTTHUMT00000316104.5	G	NM_031413	-		17976556	+1	no_errors	ENST00000400573	ensembl	human	novel	74_37	missense	SNP	1.000	A
GRM8	2918	genome.wustl.edu	37	7	126173686	126173686	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:126173686C>T	ENST00000339582.2	-	9	2558	c.1750G>A	c.(1750-1752)Gct>Act	p.A584T	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.A584T|GRM8_ENST00000444921.2_Missense_Mutation_p.A584T			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	584					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GGCACCACAGCCCAGGGAGAA	0.517										HNSCC(24;0.065)																																							0								ENSG00000179603						134.0	116.0	122.0					7																	126173686		2203	4300	6503	GRM8	SO:0001583	missense	0			-	HGNC		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1750G>A	7.37:g.126173686C>T	ENSP00000344173:p.Ala584Thr	Somatic	0	46	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.A584T	ENST00000339582.2	37	c.1750	CCDS5794.1	7	.	.	.	.	.	.	.	.	.	.	C	29.2	4.986907	0.93106	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89875	-2.5;-2.5;-2.58	5.8	5.8	0.92144	GPCR, family 3, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95268	0.8465	M	0.92691	3.335	0.80722	D	1	D;P	0.63880	0.993;0.884	P;P	0.58520	0.84;0.54	D	0.95617	0.8677	10	0.62326	D	0.03	.	19.0428	0.93008	0.0:1.0:0.0:0.0	.	584;584	O00222-2;O00222	.;GRM8_HUMAN	T	584	ENSP00000344173:A584T;ENSP00000409790:A584T;ENSP00000351142:A584T	ENSP00000344173:A584T	A	-	1	0	GRM8	125960922	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.088000	0.71371	2.758000	0.94735	0.643000	0.83706	GCT	-	pfscan_GPCR_3_C		0.517	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM8	protein_coding	OTTHUMT00000059209.4	C		-		126173686	-1	no_errors	ENST00000339582	ensembl	human	known	74_37	missense	SNP	1.000	T
FAM160B1	57700	genome.wustl.edu	37	10	116606433	116606433	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:116606433C>T	ENST00000369248.4	+	11	1849	c.1514C>T	c.(1513-1515)cCt>cTt	p.P505L	FAM160B1_ENST00000369250.3_Missense_Mutation_p.P505L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	505										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GAATATAAACCTTTGTGCCCA	0.353																																																	0								ENSG00000151553						69.0	69.0	69.0					10																	116606433		2203	4299	6502	FAM160B1	SO:0001583	missense	0			-	HGNC	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.1514C>T	10.37:g.116606433C>T	ENSP00000358251:p.Pro505Leu	Somatic	0	47	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RetinoicA-induced_16-like	p.P505L	ENST00000369248.4	37	c.1514	CCDS31290.1	10	.	.	.	.	.	.	.	.	.	.	C	16.61	3.169860	0.57584	.	.	ENSG00000151553	ENST00000369248;ENST00000369250	T;T	0.68765	-0.35;-0.35	5.83	5.83	0.93111	.	0.266640	0.44483	D	0.000452	T	0.55194	0.1905	N	0.24115	0.695	0.80722	D	1	B;P	0.38922	0.007;0.651	B;B	0.36030	0.02;0.216	T	0.52253	-0.8600	10	0.25106	T	0.35	-23.8221	20.1338	0.98010	0.0:1.0:0.0:0.0	.	505;505	Q5W0V3-2;Q5W0V3	.;F16B1_HUMAN	L	505	ENSP00000358251:P505L;ENSP00000358253:P505L	ENSP00000358251:P505L	P	+	2	0	FAM160B1	116596423	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.641000	0.67881	2.770000	0.95276	0.655000	0.94253	CCT	-	NULL		0.353	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B1	protein_coding	OTTHUMT00000050499.1	C	XM_049351	-		116606433	+1	no_errors	ENST00000369248	ensembl	human	known	74_37	missense	SNP	1.000	T
CLVS1	157807	genome.wustl.edu	37	8	62212557	62212557	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:62212557G>A	ENST00000519846.1	+	3	643	c.171G>A	c.(169-171)agG>agA	p.R57R	CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.R57R|RP11-787D18.1_ENST00000518064.1_RNA|RP11-787D18.1_ENST00000521801.1_RNA			Q8IUQ0	CLVS1_HUMAN	clavesin 1	57					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGCAAGTCAGGGACATGATCA	0.473																																																	0								ENSG00000177182						124.0	106.0	112.0					8																	62212557		2203	4300	6503	CLVS1	SO:0001819	synonymous_variant	0			-	HGNC	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.171G>A	8.37:g.62212557G>A		Somatic	0	38	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	34	16.67	B2R7M5|C8UZT3|Q8NB32	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R57	ENST00000519846.1	37	c.171	CCDS6176.1	8																																																																																			-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom		0.473	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CLVS1	protein_coding	OTTHUMT00000378323.1	G	NM_173519	-		62212557	+1	no_errors	ENST00000325897	ensembl	human	known	74_37	silent	SNP	1.000	A
ITPR2	3709	genome.wustl.edu	37	12	26634139	26634139	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:26634139A>T	ENST00000381340.3	-	43	6464	c.6048T>A	c.(6046-6048)gaT>gaA	p.D2016E		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2016					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	CAATGATGATATCAATCCCAT	0.383																																																	0								ENSG00000123104						133.0	120.0	124.0					12																	26634139		1867	4106	5973	ITPR2	SO:0001583	missense	0			-	HGNC	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.6048T>A	12.37:g.26634139A>T	ENSP00000370744:p.Asp2016Glu	Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	22	26.67	O94773	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.D2016E	ENST00000381340.3	37	c.6048	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	23.0	4.365484	0.82463	.	.	ENSG00000123104	ENST00000381340	D	0.95001	-3.58	5.31	-6.13	0.02118	RyR/IP3R Homology associated domain (1);	0.000000	0.85682	D	0.000000	D	0.95389	0.8503	L	0.60067	1.865	0.80722	D	1	D	0.65815	0.995	D	0.72338	0.977	D	0.93164	0.6560	10	0.56958	D	0.05	.	18.2021	0.89842	0.3652:0.0:0.6348:0.0	.	2016	Q14571	ITPR2_HUMAN	E	2016	ENSP00000370744:D2016E	ENSP00000370744:D2016E	D	-	3	2	ITPR2	26525406	0.892000	0.30473	0.910000	0.35882	0.980000	0.70556	0.022000	0.13511	-1.091000	0.03065	-0.250000	0.11733	GAT	-	pfam_RIH_assoc-dom		0.383	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	protein_coding	OTTHUMT00000402732.1	A	NM_002223	-		26634139	-1	no_errors	ENST00000381340	ensembl	human	known	74_37	missense	SNP	0.882	T
LRRC7	57554	genome.wustl.edu	37	1	70385538	70385538	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:70385538G>A	ENST00000035383.5	+	6	563				PIN1P1_ENST00000412108.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGGGGGCCCAGGCCTGGCCTC	0.637																																																	0								ENSG00000229359																																			PIN1P1	SO:0001627	intron_variant	0			-	HGNC		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.534-11652G>A	1.37:g.70385538G>A		Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	17	55.26	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000035383.5	37	NULL	CCDS645.1	1																																																																																			-	-		0.637	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIN1P1	protein_coding	OTTHUMT00000131261.1	G	NM_020794	-		70385538	+1	no_errors	ENST00000412108	ensembl	human	known	74_37	rna	SNP	0.000	A
MYC	4609	genome.wustl.edu	37	8	128750683	128750683	+	Missense_Mutation	SNP	C	C	T	rs121918685		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:128750683C>T	ENST00000259523.6	+	2	1380	c.175C>T	c.(175-177)Ccg>Tcg	p.P59S	MYC_ENST00000524013.1_Missense_Mutation_p.P73S|MYC_ENST00000377970.2_Missense_Mutation_p.P74S			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	59			P -> A (in a Burkitt lymphoma sample). {ECO:0000269|PubMed:8220424}.		branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GCTGCCCACCCCGCCCCTGTC	0.677		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"""L, E"""	0								ENSG00000136997						17.0	20.0	19.0					8																	128750683		2203	4299	6502	MYC	SO:0001583	missense	0			-	HGNC		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.175C>T	8.37:g.128750683C>T	ENSP00000259523:p.Pro59Ser	Somatic	0	112	0.00	1567	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	45	42.31	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Tscrpt_reg_Myc	p.P74S	ENST00000259523.6	37	c.220		8	.	.	.	.	.	.	.	.	.	.	C	33	5.194300	0.94960	.	.	ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013;ENST00000454617	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.78	4.78	0.61160	Transcription regulator Myc, N-terminal (1);	0.049059	0.85682	D	0.000000	T	0.67344	0.2883	M	0.81341	2.54	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72279	-0.4340	10	0.87932	D	0	-28.4733	17.3275	0.87253	0.0:1.0:0.0:0.0	.	59	P01106	MYC_HUMAN	S	59;73;74;73;40	ENSP00000259523:P59S;ENSP00000429441:P73S;ENSP00000367207:P74S;ENSP00000430235:P73S	ENSP00000259523:P59S	P	+	1	0	MYC	128819865	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.536000	0.82023	2.654000	0.90174	0.561000	0.74099	CCG	-	pfam_Tscrpt_reg_Myc_N,prints_Tscrpt_reg_Myc		0.677	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	MYC	protein_coding	OTTHUMT00000250278.1	C		-		128750683	+1	no_errors	ENST00000377970	ensembl	human	known	74_37	missense	SNP	1.000	T
TMC3	342125	genome.wustl.edu	37	15	81654619	81654619	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:81654619G>A	ENST00000359440.5	-	4	471	c.336C>T	c.(334-336)ctC>ctT	p.L112L	TMC3_ENST00000558726.1_Silent_p.L112L|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGTTACAGGCGAGACGAGCAA	0.468																																																	0								ENSG00000188869						75.0	72.0	73.0					15																	81654619		2001	4174	6175	TMC3	SO:0001819	synonymous_variant	0			-	HGNC	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.336C>T	15.37:g.81654619G>A		Somatic	0	54	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	23	30.30		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TMC	p.L112	ENST00000359440.5	37	c.336	CCDS45324.1	15																																																																																			-	NULL		0.468	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	protein_coding	OTTHUMT00000417795.3	G	NM_181841	-		81654619	-1	no_errors	ENST00000359440	ensembl	human	known	74_37	silent	SNP	0.009	A
SIGLEC8	27181	genome.wustl.edu	37	19	51960875	51960875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:51960875C>T	ENST00000321424.3	-	2	639	c.573G>A	c.(571-573)tgG>tgA	p.W191*	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	191	Ig-like C2-type 1.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGGCCCCAATCCAGGAGATCA	0.647																																																	0								ENSG00000105366						62.0	67.0	65.0					19																	51960875		2203	4300	6503	SIGLEC8	SO:0001587	stop_gained	0			-	HGNC	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.573G>A	19.37:g.51960875C>T	ENSP00000321077:p.Trp191*	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q7Z728	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.W191*	ENST00000321424.3	37	c.573	CCDS33086.1	19	.	.	.	.	.	.	.	.	.	.	.	19.77	3.889553	0.72524	.	.	ENSG00000105366	ENST00000321424	.	.	.	2.69	1.59	0.23543	.	0.000000	0.38111	N	0.001802	.	.	.	.	.	.	0.49798	D	0.999828	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.8703	0.18799	0.0:0.8378:0.0:0.1622	.	.	.	.	X	191	.	ENSP00000321077:W191X	W	-	3	0	SIGLEC8	56652687	0.814000	0.29104	0.385000	0.26158	0.067000	0.16453	0.852000	0.27764	0.425000	0.26087	0.502000	0.49764	TGG	-	pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom		0.647	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC8	protein_coding	OTTHUMT00000463648.2	C	NM_014442	-		51960875	-1	no_errors	ENST00000321424	ensembl	human	known	74_37	nonsense	SNP	0.630	T
FAM47A	158724	genome.wustl.edu	37	X	34148170	34148170	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:34148170G>A	ENST00000346193.3	-	1	2277	c.2226C>T	c.(2224-2226)ttC>ttT	p.F742F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	742										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGCTTAGAATGAAATCCTTAA	0.428																																																	0								ENSG00000185448						122.0	119.0	120.0					X																	34148170		2202	4300	6502	FAM47A	SO:0001819	synonymous_variant	0			-	HGNC	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2226C>T	X.37:g.34148170G>A		Somatic	0	42	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	19	42.42	A8K8I9|Q8TAA0	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.F742	ENST00000346193.3	37	c.2226	CCDS43926.1	X																																																																																			-	NULL		0.428	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	protein_coding	OTTHUMT00000056205.1	G	NM_203408	-		34148170	-1	no_errors	ENST00000346193	ensembl	human	known	74_37	silent	SNP	0.410	A
DSG2	1829	genome.wustl.edu	37	18	29118894	29118894	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr18:29118894G>A	ENST00000261590.8	+	12	2041	c.1832G>A	c.(1831-1833)gGa>gAa	p.G611E		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	611					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GTGGGCCTGGGACCCGCAGCA	0.502																																																	0								ENSG00000046604						107.0	105.0	106.0					18																	29118894		2112	4240	6352	DSG2	SO:0001583	missense	0			-	HGNC	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.1832G>A	18.37:g.29118894G>A	ENSP00000261590:p.Gly611Glu	Somatic	0	36	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	14	30.00	Q4KKU6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.G611E	ENST00000261590.8	37	c.1832	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442007	0.83993	.	.	ENSG00000046604	ENST00000261590	T	0.59502	0.26	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000011	T	0.81978	0.4937	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84597	0.0670	10	0.87932	D	0	.	19.9164	0.97064	0.0:0.0:1.0:0.0	.	611	Q14126	DSG2_HUMAN	E	611	ENSP00000261590:G611E	ENSP00000261590:G611E	G	+	2	0	DSG2	27372892	1.000000	0.71417	0.997000	0.53966	0.777000	0.43975	5.042000	0.64202	2.804000	0.96469	0.655000	0.94253	GGA	-	NULL		0.502	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	protein_coding	OTTHUMT00000447506.1	G	NM_001943	-		29118894	+1	no_errors	ENST00000261590	ensembl	human	known	74_37	missense	SNP	1.000	A
MANEA	79694	genome.wustl.edu	37	6	96054071	96054071	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:96054071C>T	ENST00000358812.4	+	5	1313	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R		NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha	393	Catalytic. {ECO:0000305}.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TTCAGACACGCCCCAGCTTAA	0.428																																																	0								ENSG00000172469						70.0	74.0	72.0					6																	96054071		2203	4300	6503	MANEA	SO:0001819	synonymous_variant	0			-	HGNC	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.1179C>T	6.37:g.96054071C>T		Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	8	46.67	A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Glycoside_hydrolase_SF	p.R393	ENST00000358812.4	37	c.1179	CCDS5032.1	6																																																																																			-	NULL		0.428	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MANEA	protein_coding	OTTHUMT00000043644.1	C	NM_024641	-		96054071	+1	no_errors	ENST00000358812	ensembl	human	known	74_37	silent	SNP	0.000	T
SLC8A3	6547	genome.wustl.edu	37	14	70634809	70634809	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:70634809C>T	ENST00000381269.2	-	2	1084	c.331G>A	c.(331-333)Gag>Aag	p.E111K	SLC8A3_ENST00000356921.2_Missense_Mutation_p.E111K|SLC8A3_ENST00000528359.1_Missense_Mutation_p.E111K|SLC8A3_ENST00000534137.1_Missense_Mutation_p.E111K|SLC8A3_ENST00000357887.3_Missense_Mutation_p.E111K	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	111					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.E111*(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATTGTCACCTCCCTCTCTTGA	0.478																																																	1	Substitution - Nonsense(1)	lung(1)						ENSG00000100678						101.0	87.0	92.0					14																	70634809		2203	4300	6503	SLC8A3	SO:0001583	missense	0			-	HGNC	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.331G>A	14.37:g.70634809C>T	ENSP00000370669:p.Glu111Lys	Somatic	0	90	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	38	26.92	Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.E111K	ENST00000381269.2	37	c.331	CCDS35498.1	14	.	.	.	.	.	.	.	.	.	.	C	17.10	3.302539	0.60195	.	.	ENSG00000100678	ENST00000356921;ENST00000381269;ENST00000357887;ENST00000534137;ENST00000528359	T;T;T;T;T	0.35605	1.38;1.3;1.44;1.38;1.44	4.96	4.96	0.65561	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.44222	0.1283	L	0.52573	1.65	0.80722	D	1	P;P;P;B	0.38300	0.527;0.582;0.626;0.397	P;P;B;B	0.49922	0.492;0.626;0.307;0.307	T	0.14282	-1.0478	10	0.27082	T	0.32	.	12.7736	0.57436	0.0:0.9217:0.0:0.0783	.	111;111;111;111	P57103-2;P57103;Q96QG2;Q96QG1	.;NAC3_HUMAN;.;.	K	111	ENSP00000349392:E111K;ENSP00000370669:E111K;ENSP00000350560:E111K;ENSP00000436688:E111K;ENSP00000433531:E111K	ENSP00000349392:E111K	E	-	1	0	SLC8A3	69704562	1.000000	0.71417	1.000000	0.80357	0.869000	0.49853	3.956000	0.56722	2.573000	0.86826	0.650000	0.86243	GAG	-	pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex		0.478	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC8A3	protein_coding	OTTHUMT00000390736.1	C		-		70634809	-1	no_errors	ENST00000381269	ensembl	human	known	74_37	missense	SNP	1.000	T
ADAMTS17	170691	genome.wustl.edu	37	15	100672346	100672346	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:100672346C>T	ENST00000268070.4	-	12	1692	c.1587G>A	c.(1585-1587)gcG>gcA	p.A529A	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	529	Disintegrin.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CGCACTCCCCCGCGCGGCACC	0.682											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000140470						21.0	22.0	22.0					15																	100672346		2203	4299	6502	ADAMTS17	SO:0001819	synonymous_variant	0			-	HGNC	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1587G>A	15.37:g.100672346C>T		Somatic	0	116	0.00	1353	0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	53	20.90	Q2I7G4|Q6ZN75	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A529	ENST00000268070.4	37	c.1587	CCDS10383.1	15																																																																																			-	smart_ADAM_Cys-rich		0.682	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	protein_coding	OTTHUMT00000313595.1	C	NM_139057	-		100672346	-1	no_errors	ENST00000268070	ensembl	human	known	74_37	silent	SNP	0.004	T
LMOD1	25802	genome.wustl.edu	37	1	201869728	201869728	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:201869728C>A	ENST00000367288.4	-	2	659	c.413G>T	c.(412-414)aGa>aTa	p.R138I	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	138					muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGCTTCATCTCTGTCTCTAGA	0.562																																																	0								ENSG00000163431						105.0	110.0	108.0					1																	201869728		1948	4148	6096	LMOD1	SO:0001583	missense	0			-	HGNC	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.413G>T	1.37:g.201869728C>A	ENSP00000356257:p.Arg138Ile	Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	9	47.06	B1APV6|C4AMB1|Q68EN2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R138I	ENST00000367288.4	37	c.413	CCDS53457.1	1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292891	0.40594	.	.	ENSG00000163431	ENST00000367288;ENST00000400965	T	0.12569	2.67	5.77	0.809	0.18725	.	0.175545	0.26654	N	0.023181	T	0.06600	0.0169	L	0.29908	0.895	0.19945	N	0.999947	P	0.43169	0.8	B	0.32289	0.143	T	0.31447	-0.9943	10	0.62326	D	0.03	-3.0751	4.2052	0.10485	0.1414:0.2094:0.0:0.6492	.	138	P29536	LMOD1_HUMAN	I	138	ENSP00000356257:R138I	ENSP00000356257:R138I	R	-	2	0	LMOD1	200136351	0.001000	0.12720	0.028000	0.17463	0.778000	0.44026	0.255000	0.18333	-0.100000	0.12241	0.655000	0.94253	AGA	-	NULL		0.562	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	LMOD1	protein_coding	OTTHUMT00000087085.2	C		-		201869728	-1	no_errors	ENST00000367288	ensembl	human	known	74_37	missense	SNP	0.177	A
COL6A5	256076	genome.wustl.edu	37	3	130098458	130098458	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:130098458C>T	ENST00000432398.2	+	4	1359	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	COL6A5_ENST00000265379.6_Missense_Mutation_p.L289F	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	289	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TATTTCTTTTCTTAAATCAAG	0.413																																																	0								ENSG00000172752						101.0	89.0	92.0					3																	130098458		692	1591	2283	COL6A5	SO:0001583	missense	0			-	HGNC	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.865C>T	3.37:g.130098458C>T	ENSP00000390895:p.Leu289Phe	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	37	19.57	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.L289F	ENST00000432398.2	37	c.865		3	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689833	0.29962	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.87887	-2.31;-2.31	5.06	5.06	0.68205	.	.	.	.	.	D	0.92681	0.7674	M	0.76838	2.35	0.44843	D	0.997853	D	0.76494	0.999	D	0.69142	0.962	D	0.91312	0.5075	9	0.27785	T	0.31	.	17.1985	0.86900	0.0:1.0:0.0:0.0	.	289	A8TX70-2	.	F	289	ENSP00000390895:L289F;ENSP00000265379:L289F	ENSP00000265379:L289F	L	+	1	0	COL6A5	131581148	1.000000	0.71417	0.050000	0.19076	0.002000	0.02628	5.316000	0.65815	2.354000	0.79902	0.557000	0.71058	CTT	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	protein_coding		C	NM_153264	-		130098458	+1	no_errors	ENST00000265379	ensembl	human	known	74_37	missense	SNP	0.984	T
SYTL4	94121	genome.wustl.edu	37	X	99956529	99956529	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:99956529T>A	ENST00000372989.1	-	5	582	c.251A>T	c.(250-252)aAt>aTt	p.N84I	SYTL4_ENST00000455616.1_Missense_Mutation_p.N84I|SYTL4_ENST00000263033.5_Missense_Mutation_p.N84I|SYTL4_ENST00000372981.1_Missense_Mutation_p.N84I|SYTL4_ENST00000276141.6_Missense_Mutation_p.N84I|SYTL4_ENST00000454200.2_Missense_Mutation_p.N84I	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	84	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CACCAGGTGATTACAACCCCG	0.567																																																	0								ENSG00000102362						108.0	91.0	97.0					X																	99956529		2203	4300	6503	SYTL4	SO:0001583	missense	0			-	HGNC		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.251A>T	X.37:g.99956529T>A	ENSP00000362080:p.Asn84Ile	Somatic	0	20	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	9	35.71	Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,prints_Synaptotagmin	p.N84I	ENST00000372989.1	37	c.251	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	T	23.7	4.447126	0.84101	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.25	5.25	0.73442	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.088604	0.85682	D	0.000000	D	0.86108	0.5854	M	0.65975	2.015	0.47547	D	0.999453	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.959	D	0.86109	0.1561	9	.	.	.	-28.0025	14.1265	0.65225	0.0:0.0:0.0:1.0	.	84;84	Q96C24-2;Q96C24	.;SYTL4_HUMAN	I	84	ENSP00000362080:N84I;ENSP00000390252:N84I;ENSP00000403556:N84I;ENSP00000276141:N84I;ENSP00000263033:N84I;ENSP00000362072:N84I	.	N	-	2	0	SYTL4	99843185	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.459000	0.80802	1.863000	0.54032	0.486000	0.48141	AAT	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ		0.567	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	protein_coding	OTTHUMT00000057488.1	T	NM_080737	-		99956529	-1	no_errors	ENST00000454200	ensembl	human	known	74_37	missense	SNP	1.000	A
TLN2	83660	genome.wustl.edu	37	15	62994352	62994352	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:62994352G>A	ENST00000561311.1	+	17	2088	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	TLN2_ENST00000306829.6_Missense_Mutation_p.G620R			Q9Y4G6	TLN2_HUMAN	talin 2	620					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACCCTCGCTGGGGCGGTGTC	0.587																																																	0								ENSG00000171914						56.0	51.0	52.0					15																	62994352		2203	4300	6503	TLN2	SO:0001583	missense	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.1858G>A	15.37:g.62994352G>A	ENSP00000453508:p.Gly620Arg	Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	11	38.89	A6NLB8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.G620R	ENST00000561311.1	37	c.1858	CCDS32261.1	15	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672678	0.88445	.	.	ENSG00000171914	ENST00000306829	T	0.69175	-0.38	5.41	5.41	0.78517	Talin, central (3);	0.091627	0.85682	D	0.000000	T	0.76593	0.4009	L	0.54323	1.7	0.58432	D	0.999999	D	0.63880	0.993	D	0.70227	0.968	T	0.75906	-0.3152	10	0.48119	T	0.1	-23.9728	13.3228	0.60442	0.0824:0.0:0.9176:0.0	.	620	Q9Y4G6	TLN2_HUMAN	R	620	ENSP00000303476:G620R	ENSP00000303476:G620R	G	+	1	0	TLN2	60781644	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.499000	0.81566	2.698000	0.92095	0.561000	0.74099	GGG	-	pfam_Talin_cent,pfam_ILWEQ_dom,superfamily_Talin_cent		0.587	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	G		-		62994352	+1	no_errors	ENST00000306829	ensembl	human	known	74_37	missense	SNP	1.000	A
SVEP1	79987	genome.wustl.edu	37	9	113166786	113166786	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:113166786A>G	ENST00000401783.2	-	39	9823	c.9487T>C	c.(9487-9489)Tgt>Cgt	p.C3163R	SVEP1_ENST00000297826.5_Missense_Mutation_p.C1089R|SVEP1_ENST00000374469.1_Missense_Mutation_p.C3140R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3163	Sushi 29. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTTTCTGACAGGTGAATGTA	0.408																																																	0								ENSG00000165124						260.0	249.0	253.0					9																	113166786		1882	4113	5995	SVEP1	SO:0001583	missense	0			-	HGNC	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.9487T>C	9.37:g.113166786A>G	ENSP00000384917:p.Cys3163Arg	Somatic	0	43	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	11.54	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.C3163R	ENST00000401783.2	37	c.9487	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	21.0	4.086886	0.76642	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	D;D;D	0.98090	-4.71;-4.71;-3.08	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.99236	0.9734	H	0.97564	4.03	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98877	1.0768	10	0.72032	D	0.01	.	16.0645	0.80861	1.0:0.0:0.0:0.0	.	3163	Q4LDE5	SVEP1_HUMAN	R	3163;3140;1089	ENSP00000384917:C3163R;ENSP00000363593:C3140R;ENSP00000297826:C1089R	ENSP00000297826:C1089R	C	-	1	0	SVEP1	112206607	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.773000	0.85462	2.200000	0.70718	0.482000	0.46254	TGT	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.408	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	protein_coding		A		-		113166786	-1	no_errors	ENST00000401783	ensembl	human	known	74_37	missense	SNP	1.000	G
NAPA	8775	genome.wustl.edu	37	19	47996381	47996381	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:47996381G>A	ENST00000263354.3	-	6	770	c.471C>T	c.(469-471)tcC>tcT	p.S157S	NAPA_ENST00000595227.1_Silent_p.S118S|NAPA-AS1_ENST00000593284.1_RNA|NAPA-AS1_ENST00000594367.1_RNA|NAPA_ENST00000593785.1_5'Flank	NM_003827.3	NP_003818.2	P54920	SNAA_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, alpha	157					apical protein localization (GO:0045176)|brain development (GO:0007420)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron differentiation (GO:0030182)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		GCTACCTGTTGGACTCCTCGC	0.642																																					Ovarian(185;1135 2042 27703 31345 42493)												0								ENSG00000105402						108.0	104.0	105.0					19																	47996381		2203	4300	6503	NAPA	SO:0001819	synonymous_variant	0			-	HGNC	U39412	CCDS12702.1	19q13.33	2012-08-16			ENSG00000105402	ENSG00000105402			7641	protein-coding gene	gene with protein product	"""alpha SNAP"""	603215				9269766	Standard	NM_003827		Approved		uc002pha.2	P54920		ENST00000263354.3:c.471C>T	19.37:g.47996381G>A		Somatic	0	93	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	36	25.00	A8K879|Q96IK3|Q9BVJ3	Silent	SNP	NA	NA	NA	NA	NA	NA	prints_NSF_attach	p.S157	ENST00000263354.3	37	c.471	CCDS12702.1	19																																																																																			-	NULL		0.642	NAPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPA	protein_coding	OTTHUMT00000466048.2	G	NM_003827	-		47996381	-1	no_errors	ENST00000263354	ensembl	human	known	74_37	silent	SNP	1.000	A
ZFYVE19	84936	genome.wustl.edu	37	15	41105991	41105991	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:41105991C>T	ENST00000355341.4	+	9	1692	c.1191C>T	c.(1189-1191)ccC>ccT	p.P397P	ZFYVE19_ENST00000564258.1_Silent_p.P222P|ZFYVE19_ENST00000299173.10_Silent_p.P329P|ZFYVE19_ENST00000336455.5_Silent_p.P387P|ZFYVE19_ENST00000570108.1_Silent_p.P374P	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	397					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGACGCAACCCCGCGGGGCAG	0.622																																																	0								ENSG00000166140						46.0	51.0	49.0					15																	41105991		1965	4145	6110	ZFYVE19	SO:0001819	synonymous_variant	0			-	HGNC	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1191C>T	15.37:g.41105991C>T		Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.P397	ENST00000355341.4	37	c.1191	CCDS42025.1	15																																																																																			-	superfamily_Znf_FYVE_PHD		0.622	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFYVE19	protein_coding	OTTHUMT00000418996.1	C	NM_032850	-		41105991	+1	no_errors	ENST00000355341	ensembl	human	known	74_37	silent	SNP	0.033	T
HRNR	388697	genome.wustl.edu	37	1	152193481	152193481	+	Silent	SNP	G	G	A	rs144030283	byFrequency	TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:152193481G>A	ENST00000368801.2	-	3	699	c.624C>T	c.(622-624)caC>caT	p.H208H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	208					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCAGAGCCGTGTTGGCCAT	0.567													g|||	7	0.00139776	0.0045	0.0	5008	,	,		20438	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000197915	G		14,4392	825.0+/-416.5	0,14,2189	111.0	121.0	118.0		624	-6.9	0.0	1	dbSNP_134	118	0,8600		0,0,4300	yes	coding-synonymous	HRNR	NM_001009931.1		0,14,6489	AA,AG,GG		0.0,0.3177,0.1076		208/2851	152193481	14,12992	2203	4300	6503	HRNR	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.624C>T	1.37:g.152193481G>A		Somatic	0	88	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	30	21.05	Q5DT20|Q5U1F4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.H208	ENST00000368801.2	37	c.624	CCDS30859.1	1																																																																																			-	NULL		0.567	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	protein_coding	OTTHUMT00000034016.1	G	XM_373868	rs144030283		152193481	-1	no_errors	ENST00000368801	ensembl	human	known	74_37	silent	SNP	0.000	A
LEKR1	389170	genome.wustl.edu	37	3	156638446	156638446	+	5'UTR	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr3:156638446G>A	ENST00000470811.1	+	0	460				LEKR1_ENST00000356539.4_Missense_Mutation_p.E116K|LEKR1_ENST00000489350.1_3'UTR|LEKR1_ENST00000491763.1_Missense_Mutation_p.E116K|LEKR1_ENST00000477399.1_Missense_Mutation_p.E116K			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1											breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTGCAAGATGAGCTAAAAAT	0.254																																																	0								ENSG00000197980						35.0	32.0	33.0					3																	156638446		690	1564	2254	LEKR1	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.-876G>A	3.37:g.156638446G>A		Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	36	34.55		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Ribosomal_L29	p.E116K	ENST00000470811.1	37	c.346		3	.	.	.	.	.	.	.	.	.	.	G	14.14	2.445898	0.43429	.	.	ENSG00000197980;ENSG00000178110	ENST00000477399;ENST00000356539	T	0.50277	0.75	5.28	4.4	0.53042	.	.	.	.	.	T	0.32224	0.0822	N	0.14661	0.345	0.23969	N	0.996311	P	0.40107	0.703	B	0.42555	0.391	T	0.06625	-1.0816	9	0.24483	T	0.36	.	8.8538	0.35217	0.0986:0.0:0.9014:0.0	.	116	D3DNK7	.	K	116	ENSP00000348936:E116K	ENSP00000348936:E116K	E	+	1	0	RP11-6F2.7;LEKR1	158121140	0.994000	0.37717	0.908000	0.35775	0.026000	0.11368	3.446000	0.52928	2.480000	0.83734	0.655000	0.94253	GAG	-	NULL		0.254	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	protein_coding	OTTHUMT00000351625.3	G	NM_001004316	-		156638446	+1	no_errors	ENST00000356539	ensembl	human	known	74_37	missense	SNP	0.949	A
TRPM1	4308	genome.wustl.edu	37	15	31319224	31319224	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:31319224G>A	ENST00000256552.6	-	26	3537	c.3390C>T	c.(3388-3390)ccC>ccT	p.P1130P	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Silent_p.P1108P|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Silent_p.P1147P	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TCATCGGTGGGGGCAGGACTG	0.468																																																	0								ENSG00000134160						111.0	108.0	109.0					15																	31319224		1938	4167	6105	TRPM1	SO:0001819	synonymous_variant	0			-	HGNC	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3390C>T	15.37:g.31319224G>A		Somatic	0	88	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	54	16.92		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom	p.P1147	ENST00000256552.6	37	c.3441	CCDS58346.1	15																																																																																			-	NULL		0.468	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	protein_coding	OTTHUMT00000417166.2	G	NM_002420	-		31319224	-1	no_errors	ENST00000542188	ensembl	human	known	74_37	silent	SNP	0.776	A
ACAN	176	genome.wustl.edu	37	15	89398803	89398803	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:89398803C>T	ENST00000561243.1	+	11	2987	c.2987C>T	c.(2986-2988)cCt>cTt	p.P996L	ACAN_ENST00000559004.1_Missense_Mutation_p.P996L|ACAN_ENST00000352105.7_Missense_Mutation_p.P996L|ACAN_ENST00000439576.2_Missense_Mutation_p.P996L			P16112	PGCA_HUMAN	aggrecan	995	29 X 19 AA approximate tandem repeats of E-[IVDG]-[LV]-[EV]-[GTI]-[STA]-[ATV]- [SP]-[GA]-[VIFAD]-[GEDL]-[DE]-[LVI]-[SG]- [GERK]-[LV]-P-S-G.|CS-1.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCGGGCTTCCTTCTGGAGAA	0.562																																																	0								ENSG00000157766						27.0	25.0	25.0					15																	89398803		1302	3227	4529	ACAN	SO:0001583	missense	0			-	HGNC	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2987C>T	15.37:g.89398803C>T	ENSP00000453342:p.Pro996Leu	Somatic	0	31	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	13	27.78	Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.P996L	ENST00000561243.1	37	c.2987	CCDS53970.1	15	.	.	.	.	.	.	.	.	.	.	C	14.09	2.430598	0.43122	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	D;D	0.96651	-4.08;-4.08	4.25	4.25	0.50352	.	.	.	.	.	D	0.97829	0.9287	M	0.81942	2.565	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.98397	1.0566	9	0.87932	D	0	-13.0489	13.6793	0.62474	0.0:1.0:0.0:0.0	.	996;996	E7ENV9;E7EX88	.;.	L	996	ENSP00000387356:P996L;ENSP00000341615:P996L	ENSP00000268134:P996L	P	+	2	0	ACAN	87199807	0.024000	0.19004	0.997000	0.53966	0.075000	0.17131	1.618000	0.36954	2.219000	0.72066	0.501000	0.49751	CCT	-	NULL		0.562	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	ACAN	protein_coding	OTTHUMT00000416267.2	C	NM_001135	-		89398803	+1	no_errors	ENST00000439576	ensembl	human	known	74_37	missense	SNP	1.000	T
OC90	729330	genome.wustl.edu	37	8	133044234	133044234	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr8:133044234C>T	ENST00000443356.2	-	13	1059	c.973G>A	c.(973-975)Gga>Aga	p.G325R	OC90_ENST00000603859.1_Missense_Mutation_p.G309R|OC90_ENST00000262283.5_Missense_Mutation_p.G521R|OC90_ENST00000254627.3_Missense_Mutation_p.G309R			Q02509	OC90_HUMAN	otoconin 90	325	Phospholipase A2-like 2.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			AGCATCTCTCCAAGCTGTGGC	0.527																																																	0								ENSG00000258417						116.0	114.0	114.0					8																	133044234		2053	4213	6266	OC90	SO:0001583	missense	0			-	Uniprot_gn	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.973G>A	8.37:g.133044234C>T	ENSP00000390050:p.Gly325Arg	Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B4DNG8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.G325R	ENST00000443356.2	37	c.973		8	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891571	0.91889	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.26518	1.73;1.73;1.73	5.91	5.91	0.95273	Phospholipase A2 (3);	0.052142	0.85682	D	0.000000	T	0.48187	0.1486	L	0.51422	1.61	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.85130	0.988;0.997	T	0.27502	-1.0072	10	0.54805	T	0.06	-16.9304	18.8623	0.92278	0.0:1.0:0.0:0.0	.	309;325	Q02509-2;Q02509	.;OC90_HUMAN	R	309;325;521	ENSP00000254627:G309R;ENSP00000390050:G325R;ENSP00000262283:G521R	ENSP00000254627:G309R	G	-	1	0	RP11-240B13.2;OC90	133113416	1.000000	0.71417	0.971000	0.41717	0.995000	0.86356	6.299000	0.72770	2.793000	0.96121	0.655000	0.94253	GGA	-	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom		0.527	OC90-201	KNOWN	basic	protein_coding	OC90	protein_coding		C	NM_001080399	-		133044234	-1	no_errors	ENST00000443356	ensembl	human	known	74_37	missense	SNP	0.998	T
DDR2	4921	genome.wustl.edu	37	1	162737119	162737119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:162737119G>A	ENST00000367922.3	+	12	1701	c.1263G>A	c.(1261-1263)tgG>tgA	p.W421*	DDR2_ENST00000367921.3_Nonsense_Mutation_p.W421*	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	421					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCATCCTCTGGAGGCAGTTCT	0.473																																					NSCLC(161;314 2006 8283 19651 23192)												0								ENSG00000162733						112.0	102.0	106.0					1																	162737119		2203	4300	6503	DDR2	SO:0001587	stop_gained	0			-	HGNC	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.1263G>A	1.37:g.162737119G>A	ENSP00000356899:p.Trp421*	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q7Z730	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.W421*	ENST00000367922.3	37	c.1263	CCDS1241.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.274342|6.274342	0.97431|0.97431	.|.	.|.	ENSG00000162733|ENSG00000162733	ENST00000433757|ENST00000367922;ENST00000367921;ENST00000458105	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.30572|.	0.0769|.	.|.	.|.	.|.	.|0.80722	.|D	.|1.000000	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.26780|.	-1.0093|.	3|.	.|0.02654	.|T	.|1	.|.	18.6038|18.6038	0.91259|0.91259	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	K|X	14|421;421;31	.|.	.|ENSP00000356898:W421X	E|W	+|+	1|3	0|0	DDR2|DDR2	161003743|161003743	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.295000|9.295000	0.96095|0.96095	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAG|TGG	-	NULL		0.473	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDR2	protein_coding	OTTHUMT00000083213.2	G	NM_006182	-		162737119	+1	no_errors	ENST00000367921	ensembl	human	known	74_37	nonsense	SNP	1.000	A
FBXL7	23194	genome.wustl.edu	37	5	15928035	15928035	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:15928035G>A	ENST00000504595.1	+	3	645	c.164G>A	c.(163-165)aGc>aAc	p.S55N	FBXL7_ENST00000329673.7_Missense_Mutation_p.S43N|FBXL7_ENST00000510662.1_Missense_Mutation_p.S8N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	55					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGCACGCCCAGCCCAGCCCTG	0.597																																																	0								ENSG00000183580						87.0	97.0	94.0					5																	15928035		2091	4212	6303	FBXL7	SO:0001583	missense	0			-	HGNC	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.164G>A	5.37:g.15928035G>A	ENSP00000423630:p.Ser55Asn	Somatic	0	91	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	37	35.09	B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.S55N	ENST00000504595.1	37	c.164	CCDS54833.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.725387	0.89298	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.11385	2.82;2.78;2.81	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	L	0.27053	0.805	0.80722	D	1	D	0.54601	0.967	P	0.57776	0.827	T	0.01152	-1.1435	10	0.39692	T	0.17	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	55	Q9UJT9	FBXL7_HUMAN	N	55;8;43	ENSP00000423630:S55N;ENSP00000425184:S8N;ENSP00000329632:S43N	ENSP00000329632:S43N	S	+	2	0	FBXL7	15981035	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.206000	0.95056	2.571000	0.86741	0.563000	0.77884	AGC	-	NULL		0.597	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL7	protein_coding	OTTHUMT00000366117.1	G	NM_012304	-		15928035	+1	no_errors	ENST00000504595	ensembl	human	known	74_37	missense	SNP	1.000	A
SMPDL3B	27293	genome.wustl.edu	37	1	28282233	28282233	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:28282233G>T	ENST00000373894.3	+	6	920	c.729G>T	c.(727-729)gaG>gaT	p.E243D	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.E243D|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.E195D|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	243					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGTTCTTTGAGAAGACGCAAA	0.552																																																	0								ENSG00000130768						85.0	83.0	84.0					1																	28282233		2203	4300	6503	SMPDL3B	SO:0001583	missense	0			-	HGNC	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.729G>T	1.37:g.28282233G>T	ENSP00000363001:p.Glu243Asp	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.E243D	ENST00000373894.3	37	c.729	CCDS30655.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173317	0.38413	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.89617	-2.54;-2.54;-2.54	5.34	4.43	0.53597	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.89114	0.6623	L	0.37630	1.12	0.46437	D	0.999049	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.84770	0.0767	10	0.13108	T	0.6	-37.3008	8.8236	0.35041	0.2279:0.0:0.7721:0.0	.	195;243;243	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	D	243;243;195;195	ENSP00000363001:E243D;ENSP00000362995:E243D;ENSP00000449450:E195D	ENSP00000362995:E243D	E	+	3	2	SMPDL3B	28154820	1.000000	0.71417	1.000000	0.80357	0.030000	0.12068	3.863000	0.56016	1.241000	0.43820	-0.448000	0.05591	GAG	-	pfam_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd		0.552	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	protein_coding	OTTHUMT00000011170.1	G	NM_014474	-		28282233	+1	no_errors	ENST00000373894	ensembl	human	known	74_37	missense	SNP	1.000	T
C9orf78	51759	genome.wustl.edu	37	9	132596001	132596001	+	Intron	DEL	A	A	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:132596001delA	ENST00000372447.3	-	3	197				USP20_ENST00000358355.1_5'Flank|C9orf78_ENST00000461762.1_5'UTR|USP20_ENST00000315480.4_5'Flank|USP20_ENST00000372429.3_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78							cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				GAGCAAAACCAAAAAAAAAAG	0.478																																																	0								ENSG00000136819						28.0	25.0	26.0					9																	132596001		2203	4299	6502	C9orf78	SO:0001627	intron_variant	0				HGNC	BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.144-13T>-	9.37:g.132596001delA		Somatic	0	25	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B3KPX8|Q8WVU6|Q9NT39	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372447.3	37	NULL	CCDS6931.1	9																																																																																			-	-		0.478	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	protein_coding	OTTHUMT00000054625.1	A	NM_016520			132596001	-1	no_errors	ENST00000461762	ensembl	human	known	74_37	rna	DEL	0.115	-
GUCY2C	2984	genome.wustl.edu	37	12	14792796	14792796	+	Splice_Site	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:14792796T>C	ENST00000261170.3	-	19	2293	c.2157A>G	c.(2155-2157)gaA>gaG	p.E719E		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	719	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	ATATACTCACTTCTAGCTCTT	0.368																																																	0								ENSG00000070019						118.0	120.0	119.0					12																	14792796		2203	4300	6503	GUCY2C	SO:0001630	splice_region_variant	0			-	HGNC		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2157+1A>G	12.37:g.14792796T>C		Somatic	0	55	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	24	27.27	B2RMY6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase	p.E719	ENST00000261170.3	37	c.2157	CCDS8664.1	12																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.368	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	protein_coding	OTTHUMT00000400835.1	T		-	Silent	14792796	-1	no_errors	ENST00000261170	ensembl	human	known	74_37	silent	SNP	1.000	C
ZFHX2	85446	genome.wustl.edu	37	14	23995703	23995703	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:23995703C>T	ENST00000419474.3	-	9	3803	c.3448G>A	c.(3448-3450)Gaa>Aaa	p.E1150K	RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|RP11-66N24.4_ENST00000556354.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1150					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GTCCCCTCTTCCTCCTCAGCC	0.617																																																	0								ENSG00000136367																																			ZFHX2	SO:0001583	missense	0			-	HGNC	AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.3448G>A	14.37:g.23995703C>T	ENSP00000413418:p.Glu1150Lys	Somatic	0	53	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	Q9UPU6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.E1150K	ENST00000419474.3	37	c.3448	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	C	12.75	2.031925	0.35893	.	.	ENSG00000136367	ENST00000419474	T	0.79033	-1.23	5.39	5.39	0.77823	.	0.291057	0.24527	N	0.037759	T	0.70141	0.3190	L	0.47716	1.5	0.32316	N	0.563041	B	0.18863	0.031	B	0.15870	0.014	T	0.66528	-0.5901	10	0.09843	T	0.71	.	16.068	0.80903	0.0:1.0:0.0:0.0	.	1150	Q9C0A1	ZFHX2_HUMAN	K	1150	ENSP00000413418:E1150K	ENSP00000413418:E1150K	E	-	1	0	ZFHX2	23065543	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.607000	0.46300	2.531000	0.85337	0.467000	0.42956	GAA	-	NULL		0.617	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	protein_coding	OTTHUMT00000346484.3	C	NM_014894	-		23995703	-1	no_errors	ENST00000419474	ensembl	human	known	74_37	missense	SNP	1.000	T
EIF4A1	1973	genome.wustl.edu	37	17	7475926	7475926	+	5'Flank	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:7475926G>A	ENST00000293831.8	+	0	0				EIF4A1_ENST00000577269.1_5'Flank|SNORA48_ENST00000386847.1_RNA|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000380512.5_5'Flank|EIF4A1_ENST00000582746.1_5'Flank	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1						cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CCGTACCGGCGAGAAAGGCGG	0.637																																					Melanoma(120;278 1668 15796 27423 46368)												0								ENSG00000265500																																			SENP3-EIF4A1	SO:0001631	upstream_gene_variant	0			-	HGNC	D13748	CCDS11113.1, CCDS58511.1	17p13	2012-02-23	2010-02-10		ENSG00000161960	ENSG00000161960		"""DEAD-boxes"""	3282	protein-coding gene	gene with protein product		602641	"""eukaryotic translation initiation factor 4A, isoform 1"""	EIF4A		8493113, 9790779	Standard	NM_001416		Approved	DDX2A, EIF-4A		P60842	OTTHUMG00000108149		17.37:g.7475926G>A	Exception_encountered	Somatic	0	22	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	15	31.82	B2R6L8|D3DTP9|J3QLC4|P04765|Q5U018|Q61516	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000293831.8	37	NULL	CCDS11113.1	17																																																																																			-	-		0.637	EIF4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SENP3-EIF4A1	protein_coding	OTTHUMT00000226952.6	G	NM_001416	-		7475926	+1	no_errors	ENST00000579777	ensembl	human	known	74_37	rna	SNP	1.000	A
BCORP1	286554	genome.wustl.edu	37	Y	21635821	21635821	+	RNA	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrY:21635821C>T	ENST00000441139.1	-	0	721					NR_002923.2		Q8N888	BCOR2_HUMAN	BCL6 corepressor pseudogene 1																		TTAAGAAATTCTTCCAACCAG	0.478																																																	0								ENSG00000215580																																			BCORP1			0			-	HGNC	AK097140		Yq11.222	2012-11-19	2010-09-30	2010-09-30	ENSG00000215580	ENSG00000215580			23953	pseudogene	pseudogene			"""BCL6 co-repressor-like 2"", ""BCL6 corepressor-like 2"""	BCORL2			Standard	NR_002923		Approved	FLJ39821	uc011nav.1	Q8N888	OTTHUMG00000036498		Y.37:g.21635821C>T		Somatic	0	72	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	15	58.33		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000441139.1	37	NULL		Y																																																																																			-	-		0.478	BCORP1-001	KNOWN	basic	processed_transcript	BCORP1	pseudogene	OTTHUMT00000088801.1	C	NM_173700	-		21635821	-1	no_errors	ENST00000400605	ensembl	human	known	74_37	rna	SNP	0.996	T
ANO5	203859	genome.wustl.edu	37	11	22279262	22279262	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:22279262C>T	ENST00000324559.8	+	14	1686	c.1369C>T	c.(1369-1371)Cca>Tca	p.P457S		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	457					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACGCGTATTCCATGGTACTT	0.373																																																	0								ENSG00000171714						163.0	152.0	155.0					11																	22279262		2203	4300	6503	ANO5	SO:0001583	missense	0			-	HGNC	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.1369C>T	11.37:g.22279262C>T	ENSP00000315371:p.Pro457Ser	Somatic	0	67	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	29	25.64		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Anoctamin	p.P457S	ENST00000324559.8	37	c.1369	CCDS31444.1	11	.	.	.	.	.	.	.	.	.	.	C	7.465	0.645552	0.14451	.	.	ENSG00000171714	ENST00000324559	T	0.62498	0.02	5.71	4.77	0.60923	.	0.459241	0.24544	N	0.037616	T	0.50939	0.1645	L	0.35288	1.05	0.31868	N	0.620119	B	0.09022	0.002	B	0.12156	0.007	T	0.50004	-0.8878	10	0.18276	T	0.48	.	16.2817	0.82692	0.0:0.6825:0.3175:0.0	.	457	Q75V66	ANO5_HUMAN	S	457	ENSP00000315371:P457S	ENSP00000315371:P457S	P	+	1	0	ANO5	22235838	1.000000	0.71417	0.971000	0.41717	0.496000	0.33645	3.592000	0.53993	2.701000	0.92244	0.460000	0.39030	CCA	-	pfam_Anoctamin		0.373	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO5	protein_coding	OTTHUMT00000387615.1	C	NM_213599	-		22279262	+1	no_errors	ENST00000324559	ensembl	human	known	74_37	missense	SNP	0.998	T
RAB8A	4218	genome.wustl.edu	37	19	16222763	16222763	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:16222763G>A	ENST00000300935.3	+	1	325	c.52G>A	c.(52-54)Ggg>Agg	p.G18R	RAB8A_ENST00000586682.1_Missense_Mutation_p.G18R|RAB8A_ENST00000588105.1_3'UTR	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	18					axonogenesis (GO:0007409)|cellular response to insulin stimulus (GO:0032869)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi vesicle fusion to target membrane (GO:0048210)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|vesicle docking involved in exocytosis (GO:0006904)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|neuronal cell body (GO:0043025)|nonmotile primary cilium (GO:0031513)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)|recycling endosome membrane (GO:0055038)|trans-Golgi network transport vesicle (GO:0030140)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						CGGGGACTCGGGGGTGGGGAA	0.602																																																	0								ENSG00000167461						168.0	171.0	170.0					19																	16222763		2203	4300	6503	RAB8A	SO:0001583	missense	0			-	HGNC		CCDS12339.1	19p13.2-p13.1	2008-05-14	2004-01-30	2004-01-30		ENSG00000167461		"""RAB, member RAS oncogene"""	7007	protein-coding gene	gene with protein product		165040	"""mel transforming oncogene (derived from cell line NK14)"""	MEL		1886711, 8408203	Standard	NM_005370		Approved	RAB8	uc002ndn.4	P61006		ENST00000300935.3:c.52G>A	19.37:g.16222763G>A	ENSP00000300935:p.Gly18Arg	Somatic	0	190	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	78	20.41	B4DEK7|P24407|Q6FHV5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G18R	ENST00000300935.3	37	c.52	CCDS12339.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.353768	0.95830	.	.	ENSG00000167461	ENST00000300935	D	0.83419	-1.72	4.54	4.54	0.55810	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91205	0.7229	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.995	D	0.92453	0.5971	10	0.87932	D	0	.	16.7905	0.85588	0.0:0.0:1.0:0.0	.	18;18;13	B4DEK7;P61006;Q59EP4	.;RAB8A_HUMAN;.	R	18	ENSP00000300935:G18R	ENSP00000300935:G18R	G	+	1	0	RAB8A	16083763	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.326000	0.79133	2.516000	0.84829	0.491000	0.48974	GGG	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.602	RAB8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB8A	protein_coding	OTTHUMT00000460186.1	G	NM_005370	-		16222763	+1	no_errors	ENST00000300935	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF606	80095	genome.wustl.edu	37	19	58499577	58499577	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:58499577G>A	ENST00000341164.4	-	6	1018	c.398C>T	c.(397-399)cCa>cTa	p.P133L	ZNF606_ENST00000536132.1_Missense_Mutation_p.P43L|ZNF606_ENST00000552579.1_5'Flank	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	133	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		GCCCTCACCTGGACAAGTGCG	0.532																																																	0								ENSG00000166704						95.0	76.0	83.0					19																	58499577		2203	4300	6503	ZNF606	SO:0001583	missense	0			-	HGNC	AB058755	CCDS12968.1	19q13.43	2013-01-08			ENSG00000166704	ENSG00000166704		"""Zinc fingers, C2H2-type"", ""-"""	25879	protein-coding gene	gene with protein product		613905		ZNF328		11347906	Standard	XM_005259276		Approved	FLJ14260, KIAA1852	uc002qqw.3	Q8WXB4	OTTHUMG00000169804	ENST00000341164.4:c.398C>T	19.37:g.58499577G>A	ENSP00000343617:p.Pro133Leu	Somatic	0	29	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	12	29.41	A8KAN2|Q8NE04|Q96JH5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P133L	ENST00000341164.4	37	c.398	CCDS12968.1	19	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301430	0.40694	.	.	ENSG00000166704	ENST00000341164;ENST00000536132;ENST00000551380	T;T;T	0.24908	1.83;3.01;1.83	3.82	3.82	0.43975	Krueppel-associated box (1);	0.358435	0.20611	N	0.088966	T	0.20820	0.0501	L	0.42245	1.32	0.40485	D	0.98048	B	0.29301	0.241	B	0.27887	0.084	T	0.05566	-1.0877	10	0.27785	T	0.31	.	11.3718	0.49704	0.0:0.0:1.0:0.0	.	133	Q8WXB4	ZN606_HUMAN	L	133;43;133	ENSP00000343617:P133L;ENSP00000445624:P43L;ENSP00000446972:P133L	ENSP00000343617:P133L	P	-	2	0	ZNF606	63191389	1.000000	0.71417	0.991000	0.47740	0.121000	0.20230	3.169000	0.50809	2.134000	0.65973	0.462000	0.41574	CCA	-	pfscan_Krueppel-associated_box		0.532	ZNF606-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF606	protein_coding	OTTHUMT00000405961.1	G	NM_025027	-		58499577	-1	no_errors	ENST00000341164	ensembl	human	known	74_37	missense	SNP	0.994	A
RAP1GDS1	5910	genome.wustl.edu	37	4	99300242	99300242	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:99300242A>T	ENST00000408927.3	+	5	549	c.436A>T	c.(436-438)Ata>Tta	p.I146L	RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.I147L|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.I147L	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	146					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		ACTGTGCAGTATAACAGATCC	0.393			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0								ENSG00000138698						140.0	141.0	140.0					4																	99300242		1918	4126	6044	RAP1GDS1	SO:0001583	missense	0			-	HGNC		CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.436A>T	4.37:g.99300242A>T	ENSP00000386153:p.Ile146Leu	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.I147L	ENST00000408927.3	37	c.439	CCDS43253.1	4	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634929	0.29068	.	.	ENSG00000138698	ENST00000508213;ENST00000408927;ENST00000453712;ENST00000511212;ENST00000339360	T;T;T;T	0.61510	1.69;1.69;0.1;1.69	5.81	0.827	0.18835	Armadillo-like helical (1);Armadillo-type fold (1);	1.053850	0.07345	N	0.881419	T	0.32585	0.0834	N	0.08118	0	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.18023	-1.0350	10	0.21540	T	0.41	3.0E-4	4.8285	0.13428	0.5934:0.0:0.1891:0.2175	.	146;147;147;146	P52306;Q4QQI8;G5E9P9;B3KNU0	GDS1_HUMAN;.;.;.	L	105;146;147;105;147	ENSP00000386153:I146L;ENSP00000407157:I147L;ENSP00000421599:I105L;ENSP00000340454:I147L	ENSP00000340454:I147L	I	+	1	0	RAP1GDS1	99519265	0.998000	0.40836	0.883000	0.34634	0.955000	0.61496	1.890000	0.39728	-0.087000	0.12528	-1.426000	0.01102	ATA	-	superfamily_ARM-type_fold		0.393	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	protein_coding	OTTHUMT00000363273.2	A	NM_001100426	-		99300242	+1	no_errors	ENST00000339360	ensembl	human	known	74_37	missense	SNP	0.130	T
ST5	6764	genome.wustl.edu	37	11	8747717	8747717	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:8747717G>A	ENST00000534127.1	-	7	1765	c.1380C>T	c.(1378-1380)tcC>tcT	p.S460S	ST5_ENST00000313726.6_Silent_p.S460S|ST5_ENST00000357665.1_Silent_p.S460S|ST5_ENST00000526757.1_Silent_p.S40S|ST5_ENST00000530438.1_Silent_p.S40S	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	460					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGGGTACAGGGACTGGAGAC	0.458																																																	0								ENSG00000166444						139.0	129.0	132.0					11																	8747717		2201	4296	6497	ST5	SO:0001819	synonymous_variant	0			-	HGNC	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.1380C>T	11.37:g.8747717G>A		Somatic	0	89	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	30	22.50	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S460	ENST00000534127.1	37	c.1380	CCDS7791.1	11																																																																																			-	NULL		0.458	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	protein_coding	OTTHUMT00000386518.1	G	NM_005418	-		8747717	-1	no_errors	ENST00000313726	ensembl	human	known	74_37	silent	SNP	1.000	A
SLCO1B7	338821	genome.wustl.edu	37	12	21242954	21242954	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:21242954G>A	ENST00000421593.2	+	13	1837	c.1837G>A	c.(1837-1839)Gaa>Aaa	p.E613K	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E660K|LST3_ENST00000540229.1_Missense_Mutation_p.E721K|LST3_ENST00000381541.3_Missense_Mutation_p.E660K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E721K|RP11-125O5.2_ENST00000590779.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	613						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						CAAAGTATTAGAAAATGAAAG	0.328																																																	0								ENSG00000111700						48.0	51.0	50.0					12																	21242954		2044	4232	6276	SLCO1B3	SO:0001583	missense	0			-	HGNC	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1837G>A	12.37:g.21242954G>A	ENSP00000394168:p.Glu613Lys	Somatic	0	48	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	30	18.92	Q71QF0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.E721K	ENST00000421593.2	37	c.2161	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	8.572	0.880260	0.17467	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.38401	1.14;1.25;1.14;1.25;1.21	2.57	2.57	0.30868	.	1.690730	0.02884	N	0.133260	T	0.23133	0.0559	N	0.08118	0	0.18873	N	0.999982	B;B;B	0.23249	0.082;0.046;0.059	B;B;B	0.28139	0.086;0.06;0.034	T	0.18493	-1.0335	10	0.20519	T	0.43	.	8.7682	0.34715	0.0:0.0:1.0:0.0	.	613;660;721	G3V0H7;F5H094;Q5JAR4	.;.;.	K	721;660;721;660;613	ENSP00000451758:E721K;ENSP00000370952:E660K;ENSP00000441269:E721K;ENSP00000452013:E660K;ENSP00000394168:E613K	ENSP00000370952:E660K	E	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134221	0.183000	0.23186	0.185000	0.23176	0.072000	0.16883	1.406000	0.34646	1.726000	0.51525	0.505000	0.49811	GAA	-	superfamily_MFS_dom_general_subst_transpt		0.328	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	protein_coding	OTTHUMT00000402066.1	G	NM_001009562	-		21242954	+1	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	SNP	0.269	A
SORBS2	8470	genome.wustl.edu	37	4	186696451	186696451	+	5'UTR	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr4:186696451G>T	ENST00000284776.7	-	0	242				SORBS2_ENST00000393528.3_5'UTR|SORBS2_ENST00000449407.2_5'UTR|SORBS2_ENST00000431808.1_5'UTR|SORBS2_ENST00000319471.9_5'UTR|SORBS2_ENST00000437304.2_5'UTR|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_5'UTR	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACATGTAGAGATTGTTTATT	0.363																																					Esophageal Squamous(153;41 2433 9491 36028)												0								ENSG00000154556																																			SORBS2	SO:0001623	5_prime_UTR_variant	0			-	HGNC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.-268C>A	4.37:g.186696451G>T		Somatic	0	49	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000284776.7	37	NULL	CCDS3845.1	4																																																																																			-	-		0.363	SORBS2-001	KNOWN	basic|CCDS	protein_coding	SORBS2	protein_coding	OTTHUMT00000347944.3	G	NM_003603	-		186696451	-1	no_errors	ENST00000463104	ensembl	human	known	74_37	rna	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23912516	23912516	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr13:23912516G>A	ENST00000382292.3	-	9	5772	c.5499C>T	c.(5497-5499)tcC>tcT	p.S1833S	SACS_ENST00000382298.3_Silent_p.S1833S|SACS_ENST00000402364.1_Silent_p.S1083S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1833					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.S1686S(1)|p.S1833S(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTCACTCAGGGAAAACTTCA	0.478																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000151835						133.0	131.0	131.0					13																	23912516		2203	4299	6502	SACS	SO:0001819	synonymous_variant	0			-	HGNC	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.5499C>T	13.37:g.23912516G>A		Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	12	45.45	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup	p.S1833	ENST00000382292.3	37	c.5499	CCDS9300.2	13																																																																																			-	NULL		0.478	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	protein_coding	OTTHUMT00000044148.3	G	NM_014363	-		23912516	-1	no_errors	ENST00000382292	ensembl	human	known	74_37	silent	SNP	0.943	A
UGT1A6	54578	genome.wustl.edu	37	2	234652241	234652241	+	Intron	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234652241C>T	ENST00000305139.6	+	2	1000				UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A4_ENST00000373409.3_Intron|DNAJB3_ENST00000449667.1_RNA|UGT1A1_ENST00000609767.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000608381.1_Intron	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6						cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_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;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GAGAATGGGTCCTGGCCGCCG	0.617																																																	0								ENSG00000227802						44.0	51.0	49.0					2																	234652241		1848	4087	5935	DNAJB3	SO:0001627	intron_variant	0			-	HGNC	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.862-23439C>T	2.37:g.234652241C>T		Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	40	20.00	A6NKK6|B8K289|Q96TE7	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000305139.6	37	NULL	CCDS2507.1	2																																																																																			-	-		0.617	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJB3	protein_coding	OTTHUMT00000130988.1	C	NM_205862	-		234652241	-1	no_errors	ENST00000449667	ensembl	human	known	74_37	rna	SNP	1.000	T
NXPE1	120400	genome.wustl.edu	37	11	114401507	114401507	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:114401507C>T	ENST00000424269.1	-	2	222	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	NXPE1_ENST00000536312.1_Missense_Mutation_p.E75K|NXPE1_ENST00000251921.2_5'UTR|NXPE1_ENST00000536271.1_5'Flank			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	75						extracellular region (GO:0005576)											TCTATGATTTCCTTTATTCTG	0.463																																																	0								ENSG00000095110																																			NXPE1	SO:0001583	missense	0			-	HGNC	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.223G>A	11.37:g.114401507C>T	ENSP00000411690:p.Glu75Lys	Somatic	0	132	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	66	9.59	B0YJ13	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NXPH/NXPE,superfamily_Ig_E-set	p.E75K	ENST00000424269.1	37	c.223		11	.	.	.	.	.	.	.	.	.	.	C	8.696	0.908505	0.17833	.	.	ENSG00000095110	ENST00000424269;ENST00000536312;ENST00000539878	T;T;T	0.50548	2.77;0.94;0.74	4.52	-0.745	0.11098	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.09310	N	1	B	0.19445	0.036	B	0.23150	0.044	T	0.28776	-1.0033	8	0.12766	T	0.61	.	8.9851	0.35988	0.0:0.5016:0.0:0.4984	.	75	F5H6W7	.	K	75	ENSP00000411690:E75K;ENSP00000442984:E75K;ENSP00000439779:E75K	ENSP00000411690:E75K	E	-	1	0	FAM55A	113906717	0.002000	0.14202	0.000000	0.03702	0.535000	0.34838	-0.295000	0.08298	-0.240000	0.09696	0.655000	0.94253	GAA	-	NULL		0.463	NXPE1-201	KNOWN	basic	protein_coding	NXPE1	protein_coding		C	NM_152315	-		114401507	-1	no_errors	ENST00000424269	ensembl	human	known	74_37	missense	SNP	0.043	T
USP40	55230	genome.wustl.edu	37	2	234442285	234442285	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:234442285G>A	ENST00000427112.2	-	10	1343	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S	USP40_ENST00000450966.1_Silent_p.S448S|USP40_ENST00000251722.6_Silent_p.S436S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	436	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTAAACCTGGGGATTCTGGAG	0.408																																																	0								ENSG00000085982						135.0	127.0	129.0					2																	234442285		1843	4078	5921	USP40	SO:0001819	synonymous_variant	0			-	HGNC	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.1308C>T	2.37:g.234442285G>A		Somatic	0	113	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	54	19.40	Q6NX38|Q70EL0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.S448	ENST00000427112.2	37	c.1344	CCDS46547.1	2																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.408	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	USP40	protein_coding	OTTHUMT00000397235.1	G	XM_114294	-		234442285	-1	no_errors	ENST00000450966	ensembl	human	known	74_37	silent	SNP	0.001	A
GOLM1	51280	genome.wustl.edu	37	9	88655783	88655783	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:88655783C>T	ENST00000388712.3	-	6	636	c.468G>A	c.(466-468)ctG>ctA	p.L156L	GOLM1_ENST00000388711.3_Splice_Site_p.L156L|GOLM1_ENST00000257504.6_5'UTR	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	156					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						TGCACTGGCTCCTTTGGTGAA	0.502																																																	0								ENSG00000135052						201.0	170.0	181.0					9																	88655783		2203	4300	6503	GOLM1	SO:0001630	splice_region_variant	0			-	HGNC	AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.468-1G>A	9.37:g.88655783C>T		Somatic	0	66	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	43	23.21	Q6IAF4|Q9NRB9	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L156	ENST00000388712.3	37	c.468	CCDS35054.1	9																																																																																			-	NULL		0.502	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	protein_coding	OTTHUMT00000052904.2	C	NM_177937	-	Silent	88655783	-1	no_errors	ENST00000388711	ensembl	human	known	74_37	silent	SNP	1.000	T
NANP	140838	genome.wustl.edu	37	20	25597014	25597014	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr20:25597014G>A	ENST00000304788.3	-	2	520	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	98					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						ATTTCCAAAGGAAATAACATT	0.403																																																	0								ENSG00000170191						85.0	86.0	85.0					20																	25597014		2203	4300	6503	NANP	SO:0001819	synonymous_variant	0			-	HGNC	AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.294C>T	20.37:g.25597014G>A		Somatic	0	22	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA	p.F98	ENST00000304788.3	37	c.294	CCDS13173.1	20																																																																																			-	pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_CTE7		0.403	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	protein_coding	OTTHUMT00000078457.2	G	NM_152667	-		25597014	-1	no_errors	ENST00000304788	ensembl	human	known	74_37	silent	SNP	0.768	A
SLC22A25	387601	genome.wustl.edu	37	11	62931545	62931545	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:62931545C>T	ENST00000306494.6	-	9	1394	c.1395G>A	c.(1393-1395)agG>agA	p.R465R	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron	NM_199352.3	NP_955384.3			solute carrier family 22, member 25											NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TAGCTCTTCCCCTTGGAGTAA	0.403																																																	0								ENSG00000196600						105.0	116.0	112.0					11																	62931545		2201	4298	6499	SLC22A25	SO:0001630	splice_region_variant	0			-	HGNC	AY437532	CCDS31592.1	11q12.3	2014-05-20			ENSG00000196600	ENSG00000196600		"""Solute carriers"""	32935	protein-coding gene	gene with protein product		610792	"""MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750"""			17714910	Standard	NM_199352		Approved	UST6, HIMTP, MGC120420	uc001nwr.1	Q6T423	OTTHUMG00000165340	ENST00000306494.6:c.1395-1G>A	11.37:g.62931545C>T		Somatic	0	26	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R465	ENST00000306494.6	37	c.1395	CCDS31592.1	11																																																																																			-	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.403	SLC22A25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A25	protein_coding	OTTHUMT00000383519.3	C	NM_199352	-	Silent	62931545	-1	no_errors	ENST00000306494	ensembl	human	known	74_37	silent	SNP	0.880	T
FAM189A1	23359	genome.wustl.edu	37	15	29526174	29526174	+	Intron	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:29526174G>A	ENST00000261275.4	-	3	387				snoZ278_ENST00000517059.1_RNA	NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1							integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						tccaaatcaggacttgatggg	0.433																																																	0								ENSG00000252868																																			snoZ278	SO:0001627	intron_variant	0			-	RFAM		CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.387+18397C>T	15.37:g.29526174G>A		Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	41	25.45	A0PK09	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000261275.4	37	NULL	CCDS45198.1	15																																																																																			-	-		0.433	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000252868	protein_coding	OTTHUMT00000417254.1	G	NM_015307	-		29526174	+1	no_errors	ENST00000517059	ensembl	human	novel	74_37	rna	SNP	0.645	A
SERPIND1	3053	genome.wustl.edu	37	22	21133933	21133933	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21133933G>A	ENST00000215727.5	+	2	616	c.333G>A	c.(331-333)ggG>ggA	p.G111G	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Silent_p.G111G|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	111					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	TGAGTGCTGGGAACATCCTCC	0.507																																																	0								ENSG00000099937						75.0	66.0	69.0					22																	21133933		2203	4300	6503	SERPIND1	SO:0001819	synonymous_variant	0			-	HGNC	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.333G>A	22.37:g.21133933G>A		Somatic	0	23	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	20	28.57	B2RAI1|D3DX34|Q6IBZ5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.G111	ENST00000215727.5	37	c.333	CCDS13783.1	22																																																																																			-	superfamily_Serpin_dom		0.507	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPIND1	protein_coding	OTTHUMT00000319961.1	G	NM_000185	-		21133933	+1	no_errors	ENST00000215727	ensembl	human	known	74_37	silent	SNP	0.000	A
GTF2H3	2967	genome.wustl.edu	37	12	124130028	124130028	+	Silent	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr12:124130028C>T	ENST00000543341.2	+	3	151	c.120C>T	c.(118-120)gcC>gcT	p.A40A	GTF2H3_ENST00000228955.7_5'UTR	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	40					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|translation (GO:0006412)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GCATAGATGCCGTGATGGTGC	0.353								Nucleotide excision repair (NER)																													Melanoma(176;111 2022 3038 14733 36962)												0								ENSG00000111358						146.0	125.0	132.0					12																	124130028		2203	4300	6503	GTF2H3	SO:0001819	synonymous_variant	0			-	HGNC	Z30093	CCDS9252.1, CCDS61275.1, CCDS73544.1	12q24.31	2012-11-05	2002-08-29		ENSG00000111358	ENSG00000111358		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4657	protein-coding gene	gene with protein product		601750	"""general transcription factor IIH, polypeptide 3 (34kD subunit)"""			8194529	Standard	NM_001516		Approved	BTF2, TFIIH, P34	uc001ufo.2	Q13889	OTTHUMG00000168697	ENST00000543341.2:c.120C>T	12.37:g.124130028C>T		Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	B2R819|B4DNZ6|Q7L0G0|Q96AT7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34	p.A40	ENST00000543341.2	37	c.120	CCDS9252.1	12																																																																																			-	pfam_TFIIH_Tfb4/p34,tigrfam_TFIIH_Tfb4/p34		0.353	GTF2H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2H3	protein_coding	OTTHUMT00000400641.2	C	NM_001516	-		124130028	+1	no_errors	ENST00000543341	ensembl	human	known	74_37	silent	SNP	0.007	T
SLC36A2	153201	genome.wustl.edu	37	5	150696517	150696517	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:150696517G>A	ENST00000335244.4	-	10	1442	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	SLC36A2_ENST00000450886.1_Missense_Mutation_p.P162L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	438					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	GATGGTGAGGGGGCTCATGCC	0.627																																																	0								ENSG00000186335						79.0	68.0	71.0					5																	150696517		2203	4300	6503	SLC36A2	SO:0001583	missense	0			-	HGNC	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1313C>T	5.37:g.150696517G>A	ENSP00000334223:p.Pro438Leu	Somatic	0	97	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	21	36.36	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AA_transpt_TM	p.P438L	ENST00000335244.4	37	c.1313	CCDS4315.1	5	.	.	.	.	.	.	.	.	.	.	G	6.233	0.411069	0.11812	.	.	ENSG00000186335	ENST00000335244;ENST00000450886	T;T	0.01871	4.59;4.59	4.92	4.05	0.47172	.	0.163302	0.56097	N	0.000033	T	0.02888	0.0086	L	0.60012	1.86	0.80722	D	1	B	0.06786	0.001	B	0.18263	0.021	T	0.38866	-0.9641	10	0.11485	T	0.65	-36.0944	9.4001	0.38426	0.076:0.1435:0.7805:0.0	.	438	Q495M3	S36A2_HUMAN	L	438;162	ENSP00000334223:P438L;ENSP00000399479:P162L	ENSP00000334223:P438L	P	-	2	0	SLC36A2	150676710	0.949000	0.32298	0.895000	0.35142	0.513000	0.34164	1.486000	0.35530	1.436000	0.47453	-0.145000	0.13849	CCC	-	pfam_AA_transpt_TM		0.627	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	protein_coding	OTTHUMT00000252437.1	G		-		150696517	-1	no_errors	ENST00000335244	ensembl	human	known	74_37	missense	SNP	0.990	A
CXorf57	55086	genome.wustl.edu	37	X	105875881	105875881	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chrX:105875881C>G	ENST00000372548.4	+	4	1115	c.1006C>G	c.(1006-1008)Cca>Gca	p.P336A	CXorf57_ENST00000372544.2_Missense_Mutation_p.P336A	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	336							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCGAGATCCCCCAACAAATAT	0.299																																																	0								ENSG00000147231						38.0	38.0	38.0					X																	105875881		2202	4298	6500	CXorf57	SO:0001583	missense	0			-	HGNC	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.1006C>G	X.37:g.105875881C>G	ENSP00000361628:p.Pro336Ala	Somatic	0	94	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	28	48.15	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_NA-bd_OB-fold	p.P336A	ENST00000372548.4	37	c.1006	CCDS14519.1	X	.	.	.	.	.	.	.	.	.	.	C	12.63	1.996772	0.35226	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.41400	1.0;1.0;1.0	4.08	3.19	0.36642	Nucleic acid-binding, OB-fold-like (1);	0.312602	0.34133	N	0.004229	T	0.42154	0.1190	N	0.25144	0.715	0.30800	N	0.739986	B;B;D	0.64830	0.22;0.22;0.994	B;B;D	0.64042	0.07;0.07;0.921	T	0.30297	-0.9983	10	0.26408	T	0.33	-3.3443	9.7524	0.40483	0.0:0.8885:0.0:0.1115	.	336;336;336	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	A	336;336;144	ENSP00000361623:P336A;ENSP00000361628:P336A;ENSP00000405866:P144A	ENSP00000361623:P336A	P	+	1	0	CXorf57	105762537	0.998000	0.40836	0.989000	0.46669	0.982000	0.71751	0.538000	0.23160	1.966000	0.57179	0.506000	0.49869	CCA	-	superfamily_NA-bd_OB-fold		0.299	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	protein_coding	OTTHUMT00000057800.2	C	NM_018015	-		105875881	+1	no_errors	ENST00000372548	ensembl	human	known	74_37	missense	SNP	0.999	G
RAPGEF5	9771	genome.wustl.edu	37	7	22196499	22196499	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:22196499G>T	ENST00000401957.2	-	6	903	c.656C>A	c.(655-657)gCc>gAc	p.A219D	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.A369D			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	219					nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGAAAAGGGCTTTATTCTG	0.423																																																	0								ENSG00000136237						104.0	106.0	105.0					7																	22196499		1876	4110	5986	RAPGEF5	SO:0001583	missense	0			-	HGNC	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.656C>A	7.37:g.22196499G>T	ENSP00000384044:p.Ala219Asp	Somatic	0	92	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	60	18.92	A4D140|Q8IXU5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A369D	ENST00000401957.2	37	c.1106		7	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971315	0.53614	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T;T	0.28666	1.6;1.6;1.6	5.76	4.87	0.63330	Ras guanine nucleotide exchange factor, domain (1);	0.155416	0.56097	D	0.000026	T	0.31389	0.0795	L	0.46157	1.445	0.58432	D	0.999994	B;P	0.39576	0.005;0.679	B;B	0.40444	0.005;0.329	T	0.03840	-1.0999	10	0.35671	T	0.21	.	15.0834	0.72133	0.0689:0.0:0.9311:0.0	.	219;369	Q92565;A8MQ07	RPGF5_HUMAN;.	D	369;219;219;219;107	ENSP00000343656:A369D;ENSP00000384044:A219D;ENSP00000415664:A107D	ENSP00000258735:A219D	A	-	2	0	RAPGEF5	22163024	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.589000	0.74080	1.407000	0.46875	0.544000	0.68410	GCC	-	superfamily_Ras_GEF_dom		0.423	RAPGEF5-001	KNOWN	basic	protein_coding	RAPGEF5	protein_coding	OTTHUMT00000326590.2	G	NM_012294	-		22196499	-1	no_errors	ENST00000344041	ensembl	human	known	74_37	missense	SNP	1.000	T
PRAMEF11	440560	genome.wustl.edu	37	1	12888398	12888398	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:12888398G>A	ENST00000535591.1	-	2	321	c.126C>T	c.(124-126)ctC>ctT	p.L42L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	42					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CAAGCCCATCGAGCACAGCTT	0.627																																																	0								ENSG00000204513																																			PRAMEF11	SO:0001819	synonymous_variant	0			-	HGNC	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.126C>T	1.37:g.12888398G>A		Somatic	0	73	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	61	25.61		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L42	ENST00000535591.1	37	c.126	CCDS53268.1	1																																																																																			-	NULL		0.627	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	protein_coding		G	XM_496341	-		12888398	-1	no_errors	ENST00000535591	ensembl	human	known	74_37	silent	SNP	0.005	A
CCDC116	164592	genome.wustl.edu	37	22	21990944	21990944	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:21990944C>T	ENST00000292779.3	+	5	1588	c.1427C>T	c.(1426-1428)tCc>tTc	p.S476F		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	476										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					AGGGACCTTTCCCTGGGCTTA	0.587																																																	0								ENSG00000161180						85.0	74.0	77.0					22																	21990944		2203	4300	6503	CCDC116	SO:0001583	missense	0			-	HGNC	BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1427C>T	22.37:g.21990944C>T	ENSP00000292779:p.Ser476Phe	Somatic	0	59	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	27	20.59	Q8N9Y9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.S476F	ENST00000292779.3	37	c.1427	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	C	3.630	-0.075710	0.07184	.	.	ENSG00000161180	ENST00000292779	T	0.10668	2.85	4.84	0.133	0.14766	.	1.939970	0.02601	N	0.101061	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26189	-1.0110	10	0.06494	T	0.89	-7.9855	0.9632	0.01399	0.1618:0.1524:0.1669:0.5189	.	476	Q8IYX3-2	.	F	476	ENSP00000292779:S476F	ENSP00000292779:S476F	S	+	2	0	CCDC116	20320944	0.004000	0.15560	0.059000	0.19551	0.403000	0.30841	0.233000	0.17911	-0.209000	0.10156	-0.237000	0.12165	TCC	-	NULL		0.587	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	protein_coding	OTTHUMT00000320199.1	C	NM_152612	-		21990944	+1	no_errors	ENST00000292779	ensembl	human	known	74_37	missense	SNP	0.142	T
SLC7A9	11136	genome.wustl.edu	37	19	33353370	33353370	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:33353370G>A	ENST00000023064.4	-	5	792	c.601C>T	c.(601-603)Caa>Taa	p.Q201*	SLC7A9_ENST00000587772.1_Nonsense_Mutation_p.Q201*|SLC7A9_ENST00000590341.1_Nonsense_Mutation_p.Q201*|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	201					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GGGTCACCTTGGGCCAGGAGC	0.642																																					GBM(181;1335 2108 9644 44178 46689)												0								ENSG00000021488						66.0	58.0	61.0					19																	33353370		2203	4300	6503	SLC7A9	SO:0001587	stop_gained	0			-	HGNC	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.601C>T	19.37:g.33353370G>A	ENSP00000023064:p.Gln201*	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	25	24.24	B2R9A6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.Q201*	ENST00000023064.4	37	c.601	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.370919	0.97511	.	.	ENSG00000021488	ENST00000023064	.	.	.	5.37	5.37	0.77165	.	0.046925	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	19.464	0.94931	0.0:0.0:1.0:0.0	.	.	.	.	X	201	.	ENSP00000023064:Q201X	Q	-	1	0	SLC7A9	38045210	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.640000	0.61368	2.686000	0.91538	0.561000	0.74099	CAA	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.642	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	G		-		33353370	-1	no_errors	ENST00000023064	ensembl	human	known	74_37	nonsense	SNP	0.998	A
PSENEN	55851	genome.wustl.edu	37	19	36236335	36236335	+	5'UTR	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:36236335C>T	ENST00000587708.2	+	0	321				IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000378975.3_5'Flank|U2AF1L4_ENST00000292879.5_5'UTR|IGFLR1_ENST00000592537.1_5'Flank|PSENEN_ENST00000222266.2_5'Flank|LIN37_ENST00000301159.9_5'Flank|U2AF1L4_ENST00000588100.1_5'UTR|AC002398.11_ENST00000591091.1_RNA|PSENEN_ENST00000591949.1_5'Flank|AC002398.9_ENST00000591613.2_5'Flank|IGFLR1_ENST00000246532.1_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|AD000671.6_ENST00000589807.1_5'Flank|U2AF1L4_ENST00000412391.2_5'Flank|AC002398.11_ENST00000585365.1_RNA			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TACGTCACTTCCGTTGCTTAG	0.582																																																	0								ENSG00000161265						90.0	94.0	93.0					19																	36236335		2203	4300	6503	U2AF1L4	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF220053	CCDS12474.1	19q13.12	2014-09-17	2013-09-12			ENSG00000205155			30100	protein-coding gene	gene with protein product		607632	"""presenilin enhancer 2 homolog (C. elegans)"""			12110170, 12660785	Standard	NM_172341		Approved	PEN2	uc002obi.1	Q9NZ42		ENST00000587708.2:c.-363C>T	19.37:g.36236335C>T		Somatic	0	74	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	37	24.49	B2R5L9	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000587708.2	37	NULL	CCDS12474.1	19																																																																																			-	-		0.582	PSENEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2AF1L4	protein_coding	OTTHUMT00000459101.2	C	NM_172341	-		36236335	-1	no_errors	ENST00000588100	ensembl	human	known	74_37	rna	SNP	1.000	T
ZNF609	23060	genome.wustl.edu	37	15	64966588	64966588	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr15:64966588T>C	ENST00000326648.3	+	4	1663	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	512						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATCAATGGACTTAAGTACCAC	0.507																																																	0								ENSG00000180357						132.0	99.0	110.0					15																	64966588		2203	4299	6502	ZNF609	SO:0001583	missense	0			-	HGNC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.1535T>C	15.37:g.64966588T>C	ENSP00000316527:p.Leu512Pro	Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	21	19.23	Q0D2I2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfscan_Znf_C2H2	p.L512P	ENST00000326648.3	37	c.1535	CCDS32270.1	15	.	.	.	.	.	.	.	.	.	.	T	17.79	3.476238	0.63737	.	.	ENSG00000180357	ENST00000326648	T	0.76316	-1.01	5.62	5.62	0.85841	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	D	0.88851	0.6549	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90503	0.4475	10	0.87932	D	0	-6.1828	15.8317	0.78757	0.0:0.0:0.0:1.0	.	512	O15014	ZN609_HUMAN	P	512	ENSP00000316527:L512P	ENSP00000316527:L512P	L	+	2	0	ZNF609	62753641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.136000	0.66102	0.533000	0.62120	CTT	-	pfscan_Znf_C2H2		0.507	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF609	protein_coding	OTTHUMT00000418130.1	T	XM_042833	-		64966588	+1	no_errors	ENST00000326648	ensembl	human	known	74_37	missense	SNP	1.000	C
ZNF846	162993	genome.wustl.edu	37	19	9868843	9868843	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr19:9868843G>T	ENST00000397902.2	-	6	1323	c.910C>A	c.(910-912)Cac>Aac	p.H304N	ZNF846_ENST00000592859.1_Missense_Mutation_p.H175N|ZNF846_ENST00000588267.1_Missense_Mutation_p.H175N|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	304					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(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TTTCCACTGTGGATTCTTGTA	0.398																																																	0								ENSG00000196605						67.0	70.0	69.0					19																	9868843		2106	4249	6355	ZNF846	SO:0001583	missense	0			-	HGNC	AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.910C>A	19.37:g.9868843G>T	ENSP00000380999:p.His304Asn	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A8K0H1|B3KUP1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H304N	ENST00000397902.2	37	c.910	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	22.2	4.252235	0.80135	.	.	ENSG00000196605	ENST00000397902	T	0.67345	-0.26	1.91	1.91	0.25777	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83050	0.5170	M	0.91872	3.25	0.28728	N	0.902639	D	0.76494	0.999	D	0.79784	0.993	T	0.74247	-0.3727	8	.	.	.	.	9.9091	0.41394	0.0:0.0:1.0:0.0	.	304	Q147U1	ZN846_HUMAN	N	304	ENSP00000380999:H304N	.	H	-	1	0	ZNF846	9729843	1.000000	0.71417	0.010000	0.14722	0.806000	0.45545	3.527000	0.53517	1.397000	0.46682	0.456000	0.33151	CAC	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	protein_coding	OTTHUMT00000450253.1	G	NM_001077624	-		9868843	-1	no_errors	ENST00000397902	ensembl	human	known	74_37	missense	SNP	0.999	T
AGGF1	55109	genome.wustl.edu	37	5	76342453	76342453	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr5:76342453A>T	ENST00000312916.7	+	6	1534	c.1152A>T	c.(1150-1152)gaA>gaT	p.E384D		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	384					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GTTATGACGAAGCCATTACCA	0.363																																																	0								ENSG00000164252						127.0	129.0	129.0					5																	76342453		2203	4300	6503	AGGF1	SO:0001583	missense	0			-	HGNC	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1152A>T	5.37:g.76342453A>T	ENSP00000316109:p.Glu384Asp	Somatic	0	41	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00	O00581|Q53YS3|Q9BU84|Q9NW66	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FHA_dom,pfam_G_patch_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_G_patch_dom,pfscan_FHA_dom,pfscan_G_patch_dom	p.E384D	ENST00000312916.7	37	c.1152	CCDS4035.1	5	.	.	.	.	.	.	.	.	.	.	A	5.979	0.364489	0.11296	.	.	ENSG00000164252	ENST00000312916	T	0.36878	1.23	4.52	1.88	0.25563	.	0.512072	0.20287	N	0.095322	T	0.12987	0.0315	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.04013	0.001	T	0.10706	-1.0618	10	0.07813	T	0.8	-24.689	3.5545	0.07860	0.5587:0.0:0.1817:0.2597	.	384	Q8N302	AGGF1_HUMAN	D	384	ENSP00000316109:E384D	ENSP00000316109:E384D	E	+	3	2	AGGF1	76378209	0.992000	0.36948	0.787000	0.31911	0.521000	0.34408	0.133000	0.15912	0.824000	0.34613	0.482000	0.46254	GAA	-	NULL		0.363	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGGF1	protein_coding	OTTHUMT00000219971.2	A	NM_018046	-		76342453	+1	no_errors	ENST00000312916	ensembl	human	known	74_37	missense	SNP	0.983	T
PARVB	29780	genome.wustl.edu	37	22	44395417	44395417	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr22:44395417G>A	ENST00000406477.3	+	2	205	c.75G>A	c.(73-75)agG>agA	p.R25R		NM_001003828.2	NP_001003828.1	Q9HBI1	PARVB_HUMAN	parvin, beta	0					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				cctgcagcaggaggctggagc	0.498																																																	0								ENSG00000188677						71.0	74.0	73.0					22																	44395417		2009	4176	6185	PARVB	SO:0001819	synonymous_variant	0			-	HGNC	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000406477.3:c.75G>A	22.37:g.44395417G>A		Somatic	0	64	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.R25	ENST00000406477.3	37	c.75	CCDS46724.1	22																																																																																			-	NULL		0.498	PARVB-001	KNOWN	basic|CCDS	protein_coding	PARVB	protein_coding	OTTHUMT00000319517.1	G	NM_001003828	-		44395417	+1	no_errors	ENST00000406477	ensembl	human	known	74_37	silent	SNP	0.000	A
OR4A47	403253	genome.wustl.edu	37	11	48511189	48511189	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:48511189C>T	ENST00000446524.1	+	1	921	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATGCTGAACCCCTTAATCTAC	0.403																																																	0								ENSG00000237388						142.0	139.0	140.0					11																	48511189		2201	4295	6496	OR4A47	SO:0001583	missense	0			-	HGNC	BK004380	CCDS31490.1	11p11.2	2012-08-09			ENSG00000237388	ENSG00000237388		"""GPCR / Class A : Olfactory receptors"""	31266	protein-coding gene	gene with protein product							Standard	NM_001005512		Approved		uc010rhx.2	Q6IF82	OTTHUMG00000166581	ENST00000446524.1:c.845C>T	11.37:g.48511189C>T	ENSP00000412752:p.Pro282Leu	Somatic	0	96	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	35	27.08		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282L	ENST00000446524.1	37	c.845	CCDS31490.1	11	.	.	.	.	.	.	.	.	.	.	N	12.10	1.835808	0.32421	.	.	ENSG00000237388	ENST00000446524	T	0.63417	-0.04	4.59	4.59	0.56863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000052	T	0.74989	0.3789	H	0.96633	3.855	0.58432	D	0.999996	B	0.30542	0.284	B	0.30251	0.113	T	0.81313	-0.0989	10	0.87932	D	0	.	14.873	0.70474	0.0:1.0:0.0:0.0	.	282	Q6IF82	O4A47_HUMAN	L	282	ENSP00000412752:P282L	ENSP00000412752:P282L	P	+	2	0	OR4A47	48467765	0.991000	0.36638	0.910000	0.35882	0.156000	0.22039	5.055000	0.64282	2.082000	0.62665	0.205000	0.17691	CCC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.403	OR4A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4A47	protein_coding	OTTHUMT00000390559.1	C	NM_001005512	-		48511189	+1	no_errors	ENST00000446524	ensembl	human	known	74_37	missense	SNP	0.998	T
PNMA1	9240	genome.wustl.edu	37	14	74180001	74180001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr14:74180001C>T	ENST00000316836.3	-	1	1127	c.342G>A	c.(340-342)tgG>tgA	p.W114*		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	114					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		cttgcacggtccacccctctc	0.502																																																	0								ENSG00000176903						78.0	82.0	81.0					14																	74180001		2203	4300	6503	PNMA1	SO:0001587	stop_gained	0			-	HGNC	AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.342G>A	14.37:g.74180001C>T	ENSP00000318914:p.Trp114*	Somatic	0	81	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	27	27.03	A8K4L5|O95144|Q8NG07	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Globin-like	p.W114*	ENST00000316836.3	37	c.342	CCDS9818.1	14	.	.	.	.	.	.	.	.	.	.	C	42	9.787996	0.99264	.	.	ENSG00000176903	ENST00000316836	.	.	.	4.06	4.06	0.47325	.	0.351753	0.21191	N	0.078645	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-5.4272	12.0532	0.53518	0.0:1.0:0.0:0.0	.	.	.	.	X	114	.	ENSP00000318914:W114X	W	-	3	0	PNMA1	73249754	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.984000	0.49353	2.551000	0.86045	0.655000	0.94253	TGG	-	NULL		0.502	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA1	protein_coding	OTTHUMT00000402774.1	C	NM_006029	-		74180001	-1	no_errors	ENST00000316836	ensembl	human	known	74_37	nonsense	SNP	1.000	T
CACNB4	785	genome.wustl.edu	37	2	152733001	152733001	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:152733001G>A	ENST00000539935.1	-	5	527	c.460C>T	c.(460-462)Cca>Tca	p.P154S	CACNB4_ENST00000360283.6_Missense_Mutation_p.P120S|CACNB4_ENST00000201943.5_Missense_Mutation_p.P154S|CACNB4_ENST00000397327.2_Missense_Mutation_p.P107S|CACNB4_ENST00000534999.1_Missense_Mutation_p.P120S|CACNB4_ENST00000427385.1_Missense_Mutation_p.P136S	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	154					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AATCTGAGTGGACTTGGAATG	0.398																																																	0								ENSG00000182389						125.0	120.0	122.0					2																	152733001		1919	4155	6074	CACNB4	SO:0001583	missense	0			-	HGNC	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.460C>T	2.37:g.152733001G>A	ENSP00000438949:p.Pro154Ser	Somatic	0	63	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	37	17.78	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu	p.P154S	ENST00000539935.1	37	c.460	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.236301	0.95240	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254;ENST00000434468	D;D;D;D;D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59;-1.59	5.45	5.45	0.79879	Src homology-3 domain (2);	0.000000	0.85682	D	0.000000	D	0.93582	0.7951	M	0.92317	3.295	0.80722	D	1	D;D;D;D;D	0.89917	0.997;1.0;0.998;0.998;0.999	D;D;D;D;D	0.91635	0.986;0.999;0.99;0.99;0.995	D	0.94571	0.7771	10	0.87932	D	0	-14.9771	19.6482	0.95790	0.0:0.0:1.0:0.0	.	154;120;154;136;120	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	S	154;120;111;149;120;107;136;154;154;107	ENSP00000438949:P154S;ENSP00000353425:P120S;ENSP00000390161:P149S;ENSP00000443893:P120S;ENSP00000380490:P107S;ENSP00000410978:P136S;ENSP00000201943:P154S;ENSP00000399242:P107S	ENSP00000201943:P154S	P	-	1	0	CACNB4	152441247	1.000000	0.71417	0.992000	0.48379	0.933000	0.57130	9.785000	0.99042	2.696000	0.92011	0.655000	0.94253	CCA	-	superfamily_SH3_domain		0.398	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3	-		152733001	-1	no_errors	ENST00000539935	ensembl	human	known	74_37	missense	SNP	1.000	A
KEL	3792	genome.wustl.edu	37	7	142643301	142643301	+	Missense_Mutation	SNP	C	C	T	rs199731371		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr7:142643301C>T	ENST00000355265.2	-	11	1781	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	436					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACAGCACTTCGGGTGCTCGG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		18078	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000197993						64.0	58.0	60.0					7																	142643301		2203	4300	6503	KEL	SO:0001583	missense	0			GMAF=0.0005	HGNC	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1307G>A	7.37:g.142643301C>T	ENSP00000347409:p.Arg436Gln	Somatic	0	60	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	13	48.00	B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.R436Q	ENST00000355265.2	37	c.1307	CCDS34766.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	7.947	0.744068	0.15710	.	.	ENSG00000197993	ENST00000355265	T	0.73681	-0.77	4.24	-8.49	0.00931	Peptidase M13 (1);	1.837240	0.03271	N	0.184806	T	0.49508	0.1561	N	0.02916	-0.46	0.09310	N	1	B	0.14438	0.01	B	0.06405	0.002	T	0.47275	-0.9130	10	0.51188	T	0.08	0.5812	12.9737	0.58527	0.0:0.5482:0.0:0.4518	.	436	P23276	KELL_HUMAN	Q	436	ENSP00000347409:R436Q	ENSP00000347409:R436Q	R	-	2	0	KEL	142353423	0.000000	0.05858	0.070000	0.20053	0.248000	0.25809	-1.527000	0.02227	-1.473000	0.01881	-0.355000	0.07637	CGA	-	pfam_Peptidase_M13_N		0.577	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEL	protein_coding	OTTHUMT00000347671.2	C	NM_000420	rs199731371		142643301	-1	no_errors	ENST00000355265	ensembl	human	known	74_37	missense	SNP	0.063	T
OR4C15	81309	genome.wustl.edu	37	11	55322305	55322305	+	Missense_Mutation	SNP	C	C	T	rs267602969		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:55322305C>T	ENST00000314644.2	+	1	523	c.523C>T	c.(523-525)Cgt>Tgt	p.R175C		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	121						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGCCTATGATCGTTATGTGGC	0.507										HNSCC(20;0.049)																																							0								ENSG00000181939						124.0	112.0	116.0					11																	55322305		2201	4296	6497	OR4C15	SO:0001583	missense	0			-	HGNC	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.523C>T	11.37:g.55322305C>T	ENSP00000324958:p.Arg175Cys	Somatic	0	45	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	19	26.92	Q6IFE2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R175C	ENST00000314644.2	37	c.523	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173339	0.38413	.	.	ENSG00000181939	ENST00000314644	T	0.77358	-1.09	5.12	4.16	0.48862	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.75838	0.3904	M	0.85542	2.76	0.36725	D	0.881385	P	0.37352	0.591	B	0.23419	0.046	D	0.84115	0.0403	9	0.72032	D	0.01	.	12.9126	0.58189	0.1621:0.8379:0.0:0.0	.	121	Q8NGM1	OR4CF_HUMAN	C	175	ENSP00000324958:R175C	ENSP00000324958:R175C	R	+	1	0	OR4C15	55078881	0.184000	0.23200	0.987000	0.45799	0.774000	0.43823	0.952000	0.29149	2.665000	0.90641	0.385000	0.25706	CGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	protein_coding	OTTHUMT00000391164.1	C	NM_001001920	-		55322305	+1	no_errors	ENST00000314644	ensembl	human	known	74_37	missense	SNP	0.966	T
GTF3C3	9330	genome.wustl.edu	37	2	197629403	197629403	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr2:197629403C>T	ENST00000263956.3	-	18	2634	c.2545G>A	c.(2545-2547)Gaa>Aaa	p.E849K		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	849					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGTCAAGTTCTATACCCTAG	0.363																																																	0								ENSG00000119041						111.0	113.0	113.0					2																	197629403		2203	4300	6503	GTF3C3	SO:0001583	missense	0			-	HGNC	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.2545G>A	2.37:g.197629403C>T	ENSP00000263956:p.Glu849Lys	Somatic	0	50	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	26	27.78	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E849K	ENST00000263956.3	37	c.2545	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787970	0.31593	.	.	ENSG00000119041	ENST00000263956	T	0.46819	0.86	4.98	4.98	0.66077	Tetratricopeptide-like helical (1);	0.270129	0.36628	N	0.002489	T	0.33294	0.0858	N	0.17474	0.49	0.80722	D	1	B	0.32324	0.364	B	0.27170	0.077	T	0.12041	-1.0563	10	0.32370	T	0.25	-10.3933	18.4479	0.90691	0.0:1.0:0.0:0.0	.	849	Q9Y5Q9	TF3C3_HUMAN	K	849	ENSP00000263956:E849K	ENSP00000263956:E849K	E	-	1	0	GTF3C3	197337648	1.000000	0.71417	0.955000	0.39395	0.014000	0.08584	4.216000	0.58540	2.588000	0.87417	0.591000	0.81541	GAA	-	NULL		0.363	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	protein_coding	OTTHUMT00000256104.1	C		-		197629403	-1	no_errors	ENST00000263956	ensembl	human	known	74_37	missense	SNP	0.949	T
CUL7	9820	genome.wustl.edu	37	6	43010622	43010622	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr6:43010622C>T	ENST00000265348.3	-	19	3648	c.3563G>A	c.(3562-3564)gGg>gAg	p.G1188E	CUL7_ENST00000535468.1_Missense_Mutation_p.G1272E|CUL7_ENST00000478630.1_5'Flank			Q14999	CUL7_HUMAN	cullin 7	1188					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCCCGAGGCCCAAACAGTTC	0.527																																																	0								ENSG00000044090						49.0	46.0	47.0					6																	43010622		2203	4300	6503	CUL7	SO:0001583	missense	0			-	HGNC	BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.3563G>A	6.37:g.43010622C>T	ENSP00000265348:p.Gly1188Glu	Somatic	0	58	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	24	36.84	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.G1272E	ENST00000265348.3	37	c.3815	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	21.3	4.136071	0.77662	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.73363	-0.74;-0.74	5.59	4.73	0.59995	Cullin, N-terminal (1);	0.368860	0.30193	N	0.010192	T	0.80894	0.4711	M	0.68593	2.085	0.80722	D	1	D;P;D;D	0.89917	0.972;0.894;1.0;1.0	P;P;D;D	0.97110	0.736;0.613;1.0;1.0	D	0.83877	0.0277	10	0.72032	D	0.01	-16.8945	14.4489	0.67372	0.0:0.9292:0.0:0.0708	.	1272;1188;1272;1188	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	E	1188;1272	ENSP00000265348:G1188E;ENSP00000438788:G1272E	ENSP00000265348:G1188E	G	-	2	0	CUL7	43118600	1.000000	0.71417	1.000000	0.80357	0.676000	0.39594	7.362000	0.79507	1.371000	0.46172	-0.245000	0.11935	GGG	-	pfam_Cullin_N		0.527	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	protein_coding	OTTHUMT00000040575.1	C	NM_014780	-		43010622	-1	no_errors	ENST00000535468	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC27A4	10999	genome.wustl.edu	37	9	131115740	131115740	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:131115740C>T	ENST00000300456.4	+	9	1361	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	SLC27A4_ENST00000372870.1_Intron	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4	415					fatty acid transport (GO:0015908)|lipid metabolic process (GO:0006629)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|response to nutrient (GO:0007584)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)|very long-chain fatty acid catabolic process (GO:0042760)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TTCGTGTACCCCATCCGGTTG	0.627																																					Pancreas(107;1554 2241 10946 12953)												0								ENSG00000167114						101.0	91.0	94.0					9																	131115740		2203	4300	6503	SLC27A4	SO:0001583	missense	0			-	HGNC	AF055899	CCDS6899.1	9q34.13	2013-05-22			ENSG00000167114	ENSG00000167114		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10998	protein-coding gene	gene with protein product		604194				9878842	Standard	NM_005094		Approved	FATP4, ACSVL4	uc004but.3	Q6P1M0	OTTHUMG00000020746	ENST00000300456.4:c.1244C>T	9.37:g.131115740C>T	ENSP00000300456:p.Pro415Leu	Somatic	0	114	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A8K2F7|O95186|Q96G53	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AMP-dep_Synth/Lig	p.P415L	ENST00000300456.4	37	c.1244	CCDS6899.1	9	.	.	.	.	.	.	.	.	.	.	C	36	5.672674	0.96754	.	.	ENSG00000167114	ENST00000300456	T	0.49139	0.79	5.9	5.9	0.94986	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.75517	0.3860	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78991	-0.1985	10	0.72032	D	0.01	-36.9078	19.2671	0.93993	0.0:1.0:0.0:0.0	.	415	Q6P1M0	S27A4_HUMAN	L	415	ENSP00000300456:P415L	ENSP00000300456:P415L	P	+	2	0	SLC27A4	130155561	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.482000	0.81143	2.788000	0.95919	0.650000	0.86243	CCC	-	pfam_AMP-dep_Synth/Lig		0.627	SLC27A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A4	protein_coding	OTTHUMT00000054432.2	C		-		131115740	+1	no_errors	ENST00000300456	ensembl	human	known	74_37	missense	SNP	1.000	T
CEP131	22994	genome.wustl.edu	37	17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T	rs577025986		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000450824.2_Missense_Mutation_p.E920K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000374782.3_Missense_Mutation_p.E884K	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		923					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)	p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		13518	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	urinary_tract(2)						ENSG00000141577						51.0	56.0	54.0					17																	79165000		2203	4300	6503	AZI1	SO:0001583	missense	0			-	HGNC																												ENST00000269392.4:c.2767G>A	17.37:g.79165000C>T	ENSP00000269392:p.Glu923Lys	Somatic	0	164	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	66	26.67	A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_t-SNARE	p.E923K	ENST00000269392.4	37	c.2767		17	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519393	0.64634	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.17213	2.29;2.34;2.29	5.15	4.18	0.49190	.	0.124400	0.52532	D	0.000062	T	0.34803	0.0910	M	0.63843	1.955	0.58432	D	0.999999	D;D;D;D	0.89917	0.997;1.0;0.973;0.973	P;D;B;B	0.67231	0.877;0.95;0.406;0.406	T	0.04178	-1.0971	10	0.27785	T	0.31	-20.5648	13.2217	0.59892	0.0:0.9231:0.0:0.0769	.	920;923;884;920	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	K	920;884;923	ENSP00000393583:E920K;ENSP00000363914:E884K;ENSP00000269392:E923K	ENSP00000269392:E923K	E	-	1	0	AZI1	76779595	1.000000	0.71417	0.796000	0.32109	0.024000	0.10985	7.355000	0.79434	1.161000	0.42604	0.591000	0.81541	GAG	-	NULL		0.652	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	AZI1	protein_coding	OTTHUMT00000256070.1	C		-		79165000	-1	no_errors	ENST00000269392	ensembl	human	known	74_37	missense	SNP	0.999	T
OR52H1	390067	genome.wustl.edu	37	11	5566669	5566669	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr11:5566669C>T	ENST00000322653.4	-	1	110	c.85G>A	c.(85-87)Gag>Aag	p.E29K	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAATTGCTCCAGGCCTGGG	0.473																																																	0								ENSG00000181616						88.0	83.0	85.0					11																	5566669		2201	4297	6498	OR52H1	SO:0001583	missense	0			-	HGNC	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.85G>A	11.37:g.5566669C>T	ENSP00000326259:p.Glu29Lys	Somatic	0	28	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	14	26.32	B9EH26|Q6IF79	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E29K	ENST00000322653.4	37	c.85	CCDS31386.1	11	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298919	0.60195	.	.	ENSG00000181616	ENST00000322653	T	0.02974	4.09	5.2	4.29	0.51040	.	0.092605	0.46758	D	0.000265	T	0.14313	0.0346	M	0.88310	2.945	0.31852	N	0.622068	P	0.50943	0.94	P	0.58721	0.844	T	0.02404	-1.1164	10	0.72032	D	0.01	.	11.9136	0.52753	0.0:0.9148:0.0:0.0852	.	29	Q8NGJ2	O52H1_HUMAN	K	29	ENSP00000326259:E29K	ENSP00000326259:E29K	E	-	1	0	OR52H1	5523245	0.937000	0.31787	0.747000	0.31113	0.360000	0.29518	1.529000	0.35996	2.432000	0.82394	0.655000	0.94253	GAG	-	NULL		0.473	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	protein_coding	OTTHUMT00000143400.1	C	NM_001005289	-		5566669	-1	no_errors	ENST00000322653	ensembl	human	known	74_37	missense	SNP	0.915	T
ZNF483	158399	genome.wustl.edu	37	9	114296583	114296583	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr9:114296583G>A	ENST00000309235.5	+	5	829	c.671G>A	c.(670-672)tGg>tAg	p.W224*	ZNF483_ENST00000355824.3_Nonsense_Mutation_p.W224*|ZNF483_ENST00000358151.4_Nonsense_Mutation_p.W224*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	224	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CAGCTAAAGTGGGTTGAATTG	0.388																																																	0								ENSG00000173258						97.0	102.0	100.0					9																	114296583		2203	4300	6503	ZNF483	SO:0001587	stop_gained	0			-	HGNC	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.671G>A	9.37:g.114296583G>A	ENSP00000311679:p.Trp224*	Somatic	0	68	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	24	38.46	Q5VZN2|Q8NAE1	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.W224*	ENST00000309235.5	37	c.671	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138809	0.56936	.	.	ENSG00000173258	ENST00000358151;ENST00000355824;ENST00000309235	.	.	.	4.59	4.59	0.56863	.	0.188722	0.26594	N	0.023519	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-14.0006	13.1327	0.59391	0.0:0.0:1.0:0.0	.	.	.	.	X	224	.	ENSP00000311679:W224X	W	+	2	0	ZNF483	113336404	1.000000	0.71417	0.965000	0.40720	0.010000	0.07245	1.095000	0.30964	2.563000	0.86464	0.650000	0.86243	TGG	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	protein_coding	OTTHUMT00000053641.1	G	XM_088567	-		114296583	+1	no_errors	ENST00000309235	ensembl	human	known	74_37	nonsense	SNP	0.430	A
CCBL2	56267	genome.wustl.edu	37	1	89430581	89430581	+	Silent	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:89430581G>A	ENST00000260508.4	-	5	721	c.384C>T	c.(382-384)atC>atT	p.I128I	CCBL2_ENST00000370485.2_Silent_p.I128I|CCBL2_ENST00000446900.2_5'UTR|CCBL2_ENST00000370491.3_Silent_p.I94I	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	128					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	mitochondrion (GO:0005739)	cysteine-S-conjugate beta-lyase activity (GO:0047804)|kynurenine-glyoxylate transaminase activity (GO:0047315)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)		CTGTCACAAGGATTTCTTTAT	0.333																																																	0								ENSG00000137944						94.0	89.0	91.0					1																	89430581		2203	4297	6500	CCBL2	SO:0001819	synonymous_variant	0			-	HGNC	AF091090	CCDS30766.1, CCDS30767.1	1p22.2	2009-06-23			ENSG00000137944	ENSG00000137944			33238	protein-coding gene	gene with protein product		610656				16376499	Standard	NM_001008662		Approved	RBM1, RP11-82K18.3, KAT3	uc001dmp.2	Q6YP21	OTTHUMG00000010617	ENST00000260508.4:c.384C>T	1.37:g.89430581G>A		Somatic	0	70	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	13	59.38	B3KQ13|O95335|Q5JS27|Q5T9T7|Q5T9T8|Q6AI27|Q6ICW1|Q9BVY5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.I128	ENST00000260508.4	37	c.384	CCDS30766.1	1																																																																																			-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.333	CCBL2-004	KNOWN	basic|CCDS	protein_coding	CCBL2	protein_coding	OTTHUMT00000029300.3	G	NM_001008661	-		89430581	-1	no_errors	ENST00000260508	ensembl	human	known	74_37	silent	SNP	1.000	A
C1orf189	388701	genome.wustl.edu	37	1	154173059	154173059	+	Missense_Mutation	SNP	C	C	T	rs201047185		TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:154173059C>T	ENST00000368525.3	-	3	105	c.80G>A	c.(79-81)cGa>cAa	p.R27Q		NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	27										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATGTGAATTTCGCCACCTGCT	0.483																																																	0								ENSG00000163263	T	GLN/ARG	0,4406		0,0,2203	200.0	187.0	191.0		80	-6.8	0.0	1		191	1,8599		0,1,4299	yes	missense	C1orf189	NM_001010979.1	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	27/102	154173059	1,13005	2203	4300	6503	C1orf189	SO:0001583	missense	0			-	HGNC		CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.80G>A	1.37:g.154173059C>T	ENSP00000357511:p.Arg27Gln	Somatic	0	77	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	41	19.61	A1L4E3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R27Q	ENST00000368525.3	37	c.80	CCDS30876.1	1	.	.	.	.	.	.	.	.	.	.	c	9.719	1.159141	0.21454	0.0	1.16E-4	ENSG00000163263	ENST00000368525	.	.	.	4.82	-6.83	0.01693	.	0.650011	0.15261	N	0.271774	T	0.13500	0.0327	L	0.33485	1.01	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.11421	-1.0588	9	0.31617	T	0.26	.	14.0757	0.64889	0.0:0.1773:0.0:0.8227	.	27	Q5VU69	CA189_HUMAN	Q	27	.	ENSP00000357511:R27Q	R	-	2	0	C1orf189	152439683	0.000000	0.05858	0.002000	0.10522	0.675000	0.39556	-2.084000	0.01363	-1.553000	0.01702	-1.163000	0.01768	CGA	-	NULL		0.483	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf189	protein_coding	OTTHUMT00000087672.1	C	NM_001010979	rs201047185		154173059	-1	no_errors	ENST00000368525	ensembl	human	known	74_37	missense	SNP	0.004	T
ALOX5	240	genome.wustl.edu	37	10	45919559	45919559	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr10:45919559delG	ENST00000374391.2	+	5	678	c.625delG	c.(625-627)gagfs	p.E209fs	ALOX5_ENST00000542434.1_Frame_Shift_Del_p.E209fs	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	209	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CGCCGACTTTGAGAAAATCTT	0.522																																																	0								ENSG00000012779						260.0	243.0	249.0					10																	45919559		2203	4300	6503	ALOX5	SO:0001589	frameshift_variant	0				HGNC	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.625delG	10.37:g.45919559delG	ENSP00000363512:p.Glu209fs	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom	p.E209fs	ENST00000374391.2	37	c.625	CCDS7212.1	10																																																																																			-	pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml		0.522	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	protein_coding	OTTHUMT00000047780.1	G				45919559	+1	no_errors	ENST00000374391	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
TMEM201	199953	genome.wustl.edu	37	1	9669901	9669901	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:9669901C>T	ENST00000340381.6	+	8	1406	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	TMEM201_ENST00000377376.4_Intron	NM_001130924.2	NP_001124396.2	Q5SNT2	TM201_HUMAN	transmembrane protein 201	466	Ser-rich.				fibroblast migration (GO:0010761)|nuclear migration (GO:0007097)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCTCCAGACTCCGGCTATCTG	0.587																																																	0								ENSG00000188807						37.0	36.0	36.0					1																	9669901		692	1591	2283	TMEM201	SO:0001583	missense	0			-	HGNC		CCDS30579.1, CCDS44055.1, CCDS44055.2	1p36.22	2009-11-06			ENSG00000188807	ENSG00000188807			33719	protein-coding gene	gene with protein product							Standard	NM_001130924		Approved	RP13-15M17.2, NET5	uc021ofy.1	Q5SNT2	OTTHUMG00000057457	ENST00000340381.6:c.1397C>T	1.37:g.9669901C>T	ENSP00000344503:p.Ser466Phe	Somatic	0	40	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	22	29.03	B9EH90|Q5SNT3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF2448,pfam_Ima1_N	p.S466F	ENST00000340381.6	37	c.1397	CCDS44055.2	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.164288	0.78339	.	.	ENSG00000188807	ENST00000340381	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	L	0.36672	1.1	0.80722	D	1	.	.	.	.	.	.	T	0.64833	-0.6314	7	0.66056	D	0.02	-17.8115	17.5924	0.88000	0.0:1.0:0.0:0.0	.	.	.	.	F	466	.	ENSP00000344503:S466F	S	+	2	0	TMEM201	9592488	1.000000	0.71417	0.958000	0.39756	0.619000	0.37552	6.151000	0.71806	2.595000	0.87683	0.655000	0.94253	TCC	-	NULL		0.587	TMEM201-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM201	protein_coding	OTTHUMT00000127672.1	C	NM_001010866	-		9669901	+1	no_errors	ENST00000340381	ensembl	human	known	74_37	missense	SNP	0.998	T
ASH1L	55870	genome.wustl.edu	37	1	155429630	155429630	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BP-01A-11D-A37C-09	TCGA-DX-A8BP-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cc3e388-14d8-4cc7-a4c3-6ddff8364f71	98f1433c-7b53-4e82-9fd9-f669bfe36ece	g.chr1:155429630G>A	ENST00000368346.3	-	4	5683	c.5044C>T	c.(5044-5046)Cct>Tct	p.P1682S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P1682S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1682	Ser-rich.				cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTCCGGGTAGGGCTACAATTT	0.413																																																	0								ENSG00000116539						86.0	85.0	85.0					1																	155429630		2203	4300	6503	ASH1L	SO:0001583	missense	0			-	HGNC	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5044C>T	1.37:g.155429630G>A	ENSP00000357330:p.Pro1682Ser	Somatic	0	69	0.00		0.5890145381243839	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	22	18.52	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.P1682S	ENST00000368346.3	37	c.5044		1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363494	0.82353	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88509	-2.39;-2.39	4.39	4.39	0.52855	.	0.071630	0.56097	D	0.000024	D	0.85115	0.5623	N	0.14661	0.345	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	D	0.84572	0.0656	10	0.25751	T	0.34	.	14.9301	0.70908	0.0:0.0:1.0:0.0	.	1682;1682	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	1682	ENSP00000357330:P1682S;ENSP00000376204:P1682S	ENSP00000357330:P1682S	P	-	1	0	ASH1L	153696254	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.344000	0.65981	2.283000	0.76528	0.591000	0.81541	CCT	-	NULL		0.413	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	protein_coding	OTTHUMT00000039400.1	G	NM_018489	-		155429630	-1	no_errors	ENST00000368346	ensembl	human	known	74_37	missense	SNP	1.000	A
