#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AMBRA1	55626	genome.wustl.edu	37	11	46568822	46568822	+	Silent	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr11:46568822C>T	ENST00000458649.2	-	4	637	c.219G>A	c.(217-219)gtG>gtA	p.V73V	AMBRA1_ENST00000528950.1_Silent_p.V73V|AMBRA1_ENST00000298834.3_Silent_p.V73V|AMBRA1_ENST00000534300.1_Silent_p.V73V|AMBRA1_ENST00000533727.1_Silent_p.V73V|AMBRA1_ENST00000426438.1_Silent_p.V73V|AMBRA1_ENST00000314845.3_Silent_p.V73V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	73					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TATTATGGTTCACATGGGTGG	0.438																																						dbGAP											0													114.0	104.0	107.0					11																	46568822		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.219G>A	11.37:g.46568822C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V73	ENST00000458649.2	37	c.219		11																																																																																			AMBRA1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000110497		0.438	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	62	0.00	0	C	NM_017749		46568822	46568822	-1	no_errors	ENST00000458649	ensembl	human	known	69_37n	silent	48	29.41	20	SNP	1.000	T
AP3B1	8546	genome.wustl.edu	37	5	77524009	77524009	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr5:77524009G>A	ENST00000255194.6	-	4	509	c.334C>T	c.(334-336)Ctt>Ttt	p.L112F	AP3B1_ENST00000519295.1_Missense_Mutation_p.L63F	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	112					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AGGAGTGCAAGATCCTGCTGT	0.368									Hermansky-Pudlak syndrome																													dbGAP											0													104.0	99.0	101.0					5																	77524009		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.334C>T	5.37:g.77524009G>A	ENSP00000255194:p.Leu112Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	p.L112F	ENST00000255194.6	37	c.334	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653912	0.67472	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760	D;D	0.85484	-1.99;-1.99	5.48	3.68	0.42216	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.072987	0.56097	D	0.000039	D	0.93148	0.7818	M	0.93375	3.41	0.80722	D	1	D	0.67145	0.996	D	0.72982	0.979	D	0.92946	0.6376	10	0.87932	D	0	-8.3107	9.8263	0.40914	0.2705:0.0:0.7295:0.0	.	112	O00203	AP3B1_HUMAN	F	112;63;112	ENSP00000255194:L112F;ENSP00000430597:L63F	ENSP00000255194:L112F	L	-	1	0	AP3B1	77559765	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.462000	0.35266	0.776000	0.33473	0.579000	0.79373	CTT	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	ENSG00000132842		0.368	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	87	0.00	0	G			77524009	77524009	-1	no_errors	ENST00000255194	ensembl	human	known	69_37n	missense	72	22.58	21	SNP	1.000	A
ATP2B2	491	genome.wustl.edu	37	3	10400565	10400565	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr3:10400565C>T	ENST00000352432.4	-	13	2015	c.1946G>A	c.(1945-1947)cGg>cAg	p.R649Q	ATP2B2_ENST00000383800.4_Missense_Mutation_p.R604Q|ATP2B2_ENST00000360273.2_Missense_Mutation_p.R649Q|ATP2B2_ENST00000343816.4_Missense_Mutation_p.R635Q|ATP2B2_ENST00000397077.1_Missense_Mutation_p.R604Q			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	649					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GTCGCGGGGCCGGAAGACACG	0.617																																					Ovarian(125;1619 1709 15675 19819 38835)	dbGAP											0													41.0	41.0	41.0					3																	10400565		2203	4300	6503	-	-	-	SO:0001583	missense	0			X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1946G>A	3.37:g.10400565C>T	ENSP00000324172:p.Arg649Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O00766|Q12994|Q16818	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.R649Q	ENST00000352432.4	37	c.1946	CCDS33701.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.985888	0.93044	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.51	4.51	0.55191	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.68742	0.3034	N	0.11201	0.11	0.80722	D	1	D;P;D	0.76494	0.999;0.903;0.963	D;B;P	0.74023	0.982;0.309;0.471	T	0.66272	-0.5965	10	0.14252	T	0.57	-23.2191	17.2302	0.86982	0.0:1.0:0.0:0.0	.	584;616;649	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	Q	649;604;604;649;635;584;505;649	ENSP00000324172:R649Q;ENSP00000373311:R604Q;ENSP00000380267:R604Q;ENSP00000353414:R649Q;ENSP00000344677:R635Q;ENSP00000414854:R505Q	ENSP00000342954:R649Q	R	-	2	0	ATP2B2	10375565	0.996000	0.38824	1.000000	0.80357	0.783000	0.44284	3.352000	0.52239	2.053000	0.61076	0.491000	0.48974	CGG	ATP2B2	-	superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000157087		0.617	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	ATP2B2	HGNC	protein_coding	OTTHUMT00000250576.2	14	0.00	0	C	NM_001683		10400565	10400565	-1	no_errors	ENST00000352432	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	1.000	T
CACNG7	59284	genome.wustl.edu	37	19	54418757	54418757	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr19:54418757C>T	ENST00000391767.1	+	4	634	c.422C>T	c.(421-423)tCg>tTg	p.S141L	CACNG7_ENST00000222212.2_Missense_Mutation_p.S141L|CACNG7_ENST00000391766.1_Missense_Mutation_p.S141L|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	141					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TTCATACTATCGGGTGAGCCT	0.562																																						dbGAP											0													93.0	85.0	88.0					19																	54418757		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.422C>T	19.37:g.54418757C>T	ENSP00000375647:p.Ser141Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_g7su,prints_VDCC_gsu	p.S141L	ENST00000391767.1	37	c.422	CCDS12868.1	19	.	.	.	.	.	.	.	.	.	.	C	17.52	3.411317	0.62399	.	.	ENSG00000105605	ENST00000391767;ENST00000222212;ENST00000391766	D;D;D	0.91068	-2.78;-2.78;-2.78	3.91	3.91	0.45181	.	0.225588	0.39083	N	0.001476	D	0.94138	0.8120	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	D	0.94605	0.7799	10	0.87932	D	0	-6.3726	14.2221	0.65833	0.0:1.0:0.0:0.0	.	141	P62955	CCG7_HUMAN	L	141	ENSP00000375647:S141L;ENSP00000222212:S141L;ENSP00000375646:S141L	ENSP00000222212:S141L	S	+	2	0	CACNG7	59110569	1.000000	0.71417	0.058000	0.19502	0.453000	0.32348	7.180000	0.77674	2.469000	0.83416	0.563000	0.77884	TCG	CACNG7	-	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu	ENSG00000105605		0.562	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG7	HGNC	protein_coding	OTTHUMT00000139240.2	102	0.00	0	C			54418757	54418757	+1	no_errors	ENST00000222212	ensembl	human	known	69_37n	missense	68	26.88	25	SNP	0.929	T
CATSPER2	117155	genome.wustl.edu	37	15	43927353	43927354	+	Intron	INS	-	-	T	rs565591354		TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr15:43927353_43927354insT	ENST00000321596.5	-	10	1378				STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000354127.4_Intron|CATSPER2_ENST00000381761.1_Intron|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000396879.1_Intron|CATSPER2_ENST00000355438.2_Intron			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2						calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		aacttaggatcttttttttttt	0.391											OREG0003957	type=REGULATORY REGION|Gene=AK093318|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.1178+203->A	15.37:g.43927364_43927364dupT		Somatic	920	WXS	Illumina GAIIx	Phase_IV	Q8NHT9|Q96P54|Q96P55	Splice_Site	INS	-	e2-1	ENST00000321596.5	37	c.34-2_34-1	CCDS10099.1	15																																																																																			CATSPER2	-	-	ENSG00000166762		0.391	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPER2	HGNC	protein_coding	OTTHUMT00000133151.2	19	0.00	0	-	NM_054020		43927353	43927354	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419262	ensembl	human	known	69_37n	splice_site_ins	27	10.00	3	INS	0.001:0.002	T
CD2	914	genome.wustl.edu	37	1	117311125	117311125	+	Missense_Mutation	SNP	A	A	C	rs201567293		TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr1:117311125A>C	ENST00000369478.3	+	5	884	c.776A>C	c.(775-777)gAa>gCa	p.E259A		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	259					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GTAGCTACTGAAGAAAGGGGC	0.498																																					NSCLC(14;263 555 26380 43512 51332)	dbGAP											0													60.0	59.0	59.0					1																	117311125		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	ENST00000369478.3:c.776A>C	1.37:g.117311125A>C	ENSP00000358490:p.Glu259Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96TE5	Missense_Mutation	SNP	pfam_Ig_C2-set,pfam_Ig_V-set,prints_T-cell_sdhesion_molc_CD2	p.E259A	ENST00000369478.3	37	c.776	CCDS889.1	1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.826876	0.50739	.	.	ENSG00000116824	ENST00000369478	T	0.47528	0.84	5.14	2.78	0.32641	.	0.487537	0.20592	N	0.089332	T	0.27063	0.0663	L	0.48642	1.525	0.09310	N	1	D	0.58268	0.982	P	0.51415	0.669	T	0.07424	-1.0773	10	0.40728	T	0.16	-6.8137	4.1716	0.10332	0.7188:0.0:0.0957:0.1854	.	259	P06729	CD2_HUMAN	A	259	ENSP00000358490:E259A	ENSP00000358490:E259A	E	+	2	0	CD2	117112648	0.816000	0.29132	0.008000	0.14137	0.017000	0.09413	1.663000	0.37429	0.488000	0.27723	0.533000	0.62120	GAA	CD2	-	NULL	ENSG00000116824		0.498	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD2	HGNC	protein_coding	OTTHUMT00000059039.2	32	0.00	0	A	NM_001767		117311125	117311125	+1	no_errors	ENST00000369478	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	0.011	C
CILP	8483	genome.wustl.edu	37	15	65496643	65496643	+	Silent	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr15:65496643C>T	ENST00000261883.4	-	6	1048	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	294					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGGCTGCCTTCAGGCTAGTCT	0.473																																						dbGAP											0													96.0	90.0	92.0					15																	65496643		2201	4299	6500	-	-	-	SO:0001819	synonymous_variant	0			AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.882G>A	15.37:g.65496643C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8F7|Q6UW99|Q8IYI5	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.L294	ENST00000261883.4	37	c.882	CCDS10203.1	15																																																																																			CILP	-	NULL	ENSG00000138615		0.473	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CILP	HGNC	protein_coding	OTTHUMT00000256829.1	55	0.00	0	C	NM_003613		65496643	65496643	-1	no_errors	ENST00000261883	ensembl	human	known	69_37n	silent	48	22.58	14	SNP	0.026	T
COL11A1	1301	genome.wustl.edu	37	1	103461544	103461544	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr1:103461544C>T	ENST00000370096.3	-	27	2608		c.e27+1		COL11A1_ENST00000512756.1_Splice_Site|COL11A1_ENST00000353414.4_Splice_Site|COL11A1_ENST00000358392.2_Splice_Site	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1						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)		TTTAACGTTACCTTTACTCCC	0.393																																						dbGAP											0													50.0	56.0	54.0					1																	103461544		2202	4298	6500	-	-	-	SO:0001630	splice_region_variant	0			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.2295+1G>A	1.37:g.103461544C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Splice_Site	SNP	-	e27+1	ENST00000370096.3	37	c.2331+1	CCDS778.1	1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.786940	0.70337	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8579	0.96771	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL11A1	103234132	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	7.172000	0.77604	2.687000	0.91594	0.655000	0.94253	.	COL11A1	-	-	ENSG00000060718		0.393	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COL11A1	HGNC	protein_coding	OTTHUMT00000029997.1	23	0.00	0	C	NM_080630	Intron	103461544	103461544	-1	no_errors	ENST00000358392	ensembl	human	known	69_37n	splice_site	19	50.00	19	SNP	1.000	T
DCD	117159	genome.wustl.edu	37	12	55039438	55039438	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr12:55039438A>T	ENST00000293371.6	-	3	340	c.151T>A	c.(151-153)Tta>Ata	p.L51I	DCD_ENST00000456047.2_Missense_Mutation_p.L51I	NM_053283.2	NP_444513.1	P81605	DCD_HUMAN	dermcidin	51					defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(1001;0.0255)				TGTCTGGCTAACCCTGGGTCT	0.478																																						dbGAP											0													194.0	163.0	174.0					12																	55039438		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF144011	CCDS8884.1, CCDS73478.1	12q13.1	2008-08-04				ENSG00000161634			14669	protein-coding gene	gene with protein product	"""proteolysis inducing factor"", ""preproteolysin"", ""diffusible survival/evasion peptide"", ""survival promoting peptide"""	606634				11694882	Standard	XM_005268627		Approved	AIDD, PIF, DSEP, HCAP, DCD-1	uc001sgj.3	P81605	OTTHUMG00000169937	ENST00000293371.6:c.151T>A	12.37:g.55039438A>T	ENSP00000293371:p.Leu51Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A5JHP2|A5JHP3|P58461|Q53YJ2	Missense_Mutation	SNP	NULL	p.L51I	ENST00000293371.6	37	c.151	CCDS8884.1	12	.	.	.	.	.	.	.	.	.	.	A	9.336	1.061902	0.19987	.	.	ENSG00000161634	ENST00000293371;ENST00000456047	.	.	.	2.51	1.25	0.21368	.	.	.	.	.	T	0.25865	0.0630	N	0.08118	0	0.09310	N	1	D;D	0.58620	0.983;0.983	P;P	0.60173	0.87;0.87	T	0.09530	-1.0670	8	0.87932	D	0	.	4.5245	0.11975	0.7103:0.0:0.0:0.2897	.	51;51	A5JHP3;P81605	.;DCD_HUMAN	I	51	.	ENSP00000293371:L51I	L	-	1	2	DCD	53325705	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.303000	0.19210	0.342000	0.23796	0.459000	0.35465	TTA	DCD	-	NULL	ENSG00000161634		0.478	DCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCD	HGNC	protein_coding	OTTHUMT00000406617.1	137	0.00	0	A	NM_053283		55039438	55039438	-1	no_errors	ENST00000293371	ensembl	human	known	69_37n	missense	98	29.79	42	SNP	0.001	T
DDX18	8886	genome.wustl.edu	37	2	118582184	118582184	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr2:118582184G>A	ENST00000263239.2	+	8	1234	c.1106G>A	c.(1105-1107)cGa>cAa	p.R369Q		NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	369	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACCCAAACTCGAAAAGTTGAA	0.408																																						dbGAP											0													107.0	108.0	108.0					2																	118582184		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98743	CCDS2120.1	2q21.2	2008-02-05	2003-06-13		ENSG00000088205	ENSG00000088205		"""DEAD-boxes"""	2741	protein-coding gene	gene with protein product		606355	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 18 (Myc-regulated)"""			8861962	Standard	NM_006773		Approved	MrDb	uc002tlh.1	Q9NVP1	OTTHUMG00000058521	ENST00000263239.2:c.1106G>A	2.37:g.118582184G>A	ENSP00000263239:p.Arg369Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6GTZ9|Q6IAU4|Q92732|Q9BQB7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R369Q	ENST00000263239.2	37	c.1106	CCDS2120.1	2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139020	0.77775	.	.	ENSG00000088205	ENST00000263239;ENST00000539346;ENST00000415038	T;T	0.15372	2.43;2.43	4.68	4.68	0.58851	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.120267	0.56097	D	0.000035	T	0.09730	0.0239	N	0.04148	-0.265	0.80722	D	1	B	0.22746	0.074	B	0.11329	0.006	T	0.22417	-1.0217	10	0.33940	T	0.23	-0.06	18.2033	0.89846	0.0:0.0:1.0:0.0	.	369	Q9NVP1	DDX18_HUMAN	Q	369;108;52	ENSP00000263239:R369Q;ENSP00000415604:R52Q	ENSP00000263239:R369Q	R	+	2	0	DDX18	118298654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.913000	0.92730	2.614000	0.88457	0.558000	0.71614	CGA	DDX18	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000088205		0.408	DDX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX18	HGNC	protein_coding	OTTHUMT00000129632.3	142	0.00	0	G	NM_006773		118582184	118582184	+1	no_errors	ENST00000263239	ensembl	human	known	69_37n	missense	81	28.32	32	SNP	1.000	A
DGKB	1607	genome.wustl.edu	37	7	14880851	14880851	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr7:14880851G>A	ENST00000403951.2	-	2	457	c.38C>T	c.(37-39)tCg>tTg	p.S13L	DGKB_ENST00000399322.3_Missense_Mutation_p.S13L|DGKB_ENST00000407950.1_Missense_Mutation_p.S13L|DGKB_ENST00000402815.1_Missense_Mutation_p.S13L|DGKB_ENST00000406247.3_Missense_Mutation_p.S13L|DGKB_ENST00000444700.2_Missense_Mutation_p.S13L|DGKB_ENST00000258767.5_Missense_Mutation_p.S13L|DGKB_ENST00000403963.1_5'UTR			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	13					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GGAAAATTCCGAAGGGCTGAG	0.378																																						dbGAP											0													80.0	78.0	79.0					7																	14880851		1851	4092	5943	-	-	-	SO:0001583	missense	0			AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.38C>T	7.37:g.14880851G>A	ENSP00000385780:p.Ser13Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.S13L	ENST00000403951.2	37	c.38	CCDS47547.1	7	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640334	0.47153	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247;ENST00000437998	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	5.43	5.43	0.79202	.	0.339653	0.24657	N	0.036664	T	0.28764	0.0713	N	0.11255	0.115	0.34129	D	0.664993	B;B;B;B	0.06786	0.001;0.001;0.001;0.0	B;B;B;B	0.08055	0.001;0.003;0.003;0.0	T	0.26538	-1.0100	10	0.44086	T	0.13	.	18.0669	0.89394	0.0:0.0:1.0:0.0	.	13;13;13;13	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	L	13	ENSP00000385780:S13L;ENSP00000382260:S13L;ENSP00000258767:S13L;ENSP00000384909:S13L;ENSP00000385031:S13L;ENSP00000388451:S13L;ENSP00000386066:S13L;ENSP00000405569:S13L	ENSP00000258767:S13L	S	-	2	0	DGKB	14847376	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.613000	0.61176	2.570000	0.86706	0.465000	0.42564	TCG	DGKB	-	NULL	ENSG00000136267		0.378	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKB	HGNC	protein_coding	OTTHUMT00000326356.2	119	0.00	0	G	NM_004080		14880851	14880851	-1	no_errors	ENST00000258767	ensembl	human	known	69_37n	missense	98	34.67	52	SNP	1.000	A
DIAPH2	1730	genome.wustl.edu	37	X	96185793	96185793	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chrX:96185793T>A	ENST00000324765.8	+	10	1387	c.1040T>A	c.(1039-1041)aTa>aAa	p.I347K	DIAPH2_ENST00000373054.4_Missense_Mutation_p.I343K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.I347K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.I347K|DIAPH2_ENST00000373049.4_Missense_Mutation_p.I347K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	347	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GATTTTCGAATACATTTAAGG	0.308																																						dbGAP											0													86.0	78.0	81.0					X																	96185793		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1040T>A	X.37:g.96185793T>A	ENSP00000321348:p.Ile347Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.I347K	ENST00000324765.8	37	c.1040	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	T	17.82	3.484170	0.63962	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87;-1.87	4.91	4.91	0.64330	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	M	0.74258	2.255	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.81914	0.986;0.992;0.995	D	0.92521	0.6025	10	0.87932	D	0	.	13.9652	0.64205	0.0:0.0:0.0:1.0	.	347;347;354	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	K	347;343;347;347;347;354	ENSP00000362152:I347K;ENSP00000362145:I343K;ENSP00000348082:I347K;ENSP00000362140:I347K;ENSP00000321348:I347K	ENSP00000321348:I347K	I	+	2	0	DIAPH2	96072449	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.424000	0.80242	1.743000	0.51761	0.478000	0.44815	ATA	DIAPH2	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000147202		0.308	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	126	0.00	0	T	NM_006729, NM_007309		96185793	96185793	+1	no_errors	ENST00000324765	ensembl	human	known	69_37n	missense	83	33.60	42	SNP	1.000	A
DOCK7	85440	genome.wustl.edu	37	1	62970400	62970400	+	Silent	SNP	G	G	C			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr1:62970400G>C	ENST00000340370.5	-	36	4589	c.4572C>G	c.(4570-4572)ctC>ctG	p.L1524L	DOCK7_ENST00000251157.5_Silent_p.L1546L	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1555					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGAGAAGCCTGAGGCATAAAT	0.423																																						dbGAP											0													89.0	83.0	85.0					1																	62970400		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4572C>G	1.37:g.62970400G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,superfamily_ARM-type_fold	p.Q718E	ENST00000340370.5	37	c.2152	CCDS30734.1	1	.	.	.	.	.	.	.	.	.	.	G	8.347	0.830009	0.16749	.	.	ENSG00000116641	ENST00000454575	.	.	.	5.15	-3.35	0.04928	.	.	.	.	.	T	0.63379	0.2506	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63323	-0.6663	4	.	.	.	.	13.8125	0.63273	0.142:0.6173:0.2407:0.0	.	.	.	.	E	718	.	.	Q	-	1	0	DOCK7	62742988	0.708000	0.27876	0.984000	0.44739	0.909000	0.53808	-0.049000	0.11924	-0.391000	0.07763	-0.176000	0.13171	CAG	DOCK7	-	superfamily_ARM-type_fold	ENSG00000116641		0.423	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	49	0.00	0	G	NM_033407		62970400	62970400	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000454575	ensembl	human	known	69_37n	missense	65	22.62	19	SNP	0.996	C
DPP4	1803	genome.wustl.edu	37	2	162929936	162929936	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr2:162929936C>T	ENST00000360534.3	-	2	627	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	AC008063.2_ENST00000418335.1_RNA	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	23					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	ACCACGGGCACGGTGATGATG	0.522																																						dbGAP											0													93.0	90.0	91.0					2																	162929936		2203	4300	6503	-	-	-	SO:0001583	missense	0			M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.67G>A	2.37:g.162929936C>T	ENSP00000353731:p.Val23Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TN1	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.V23M	ENST00000360534.3	37	c.67	CCDS2216.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002027	0.74932	.	.	ENSG00000197635	ENST00000360534	T	0.24350	1.86	4.75	4.75	0.60458	.	0.303789	0.30611	N	0.009258	T	0.42449	0.1203	L	0.61387	1.9	0.40446	D	0.980093	D	0.89917	1.0	D	0.76575	0.988	T	0.21759	-1.0236	10	0.08381	T	0.77	.	13.4269	0.61030	0.0:1.0:0.0:0.0	.	23	P27487	DPP4_HUMAN	M	23	ENSP00000353731:V23M	ENSP00000353731:V23M	V	-	1	0	DPP4	162638182	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.233000	0.51311	2.603000	0.88011	0.650000	0.86243	GTG	DPP4	-	NULL	ENSG00000197635		0.522	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPP4	HGNC	protein_coding	OTTHUMT00000255079.2	47	0.00	0	C			162929936	162929936	-1	no_errors	ENST00000360534	ensembl	human	known	69_37n	missense	42	16.00	8	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56437729	56437729	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr6:56437729C>T	ENST00000361203.3	-	48	12744	c.12737G>A	c.(12736-12738)cGg>cAg	p.R4246Q	DST_ENST00000370769.4_Missense_Mutation_p.R4248Q|DST_ENST00000244364.6_Missense_Mutation_p.R1834Q|DST_ENST00000446842.2_Missense_Mutation_p.R3922Q|DST_ENST00000370754.5_Missense_Mutation_p.R4426Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.R2160Q|DST_ENST00000370788.2_Missense_Mutation_p.R2160Q			Q03001	DYST_HUMAN	dystonin	4246					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCTGAAAACCGAGCAGACAA	0.388																																						dbGAP											0													109.0	95.0	99.0					6																	56437729		1858	4116	5974	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12737G>A	6.37:g.56437729C>T	ENSP00000354508:p.Arg4246Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R4426Q	ENST00000361203.3	37	c.13277		6	.	.	.	.	.	.	.	.	.	.	C	20.5	4.000733	0.74818	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.78	5.78	0.91487	.	0.000000	0.45606	D	0.000355	T	0.51635	0.1686	M	0.63428	1.95	0.31913	N	0.614395	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.997;0.995	D;D;D;P;P	0.81914	0.984;0.987;0.995;0.67;0.79	T	0.32798	-0.9893	9	0.34782	T	0.22	.	20.0175	0.97485	0.0:1.0:0.0:0.0	.	2160;4248;4426;4246;1834	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	Q	1834;4426;4248;2160;3922;2160;4246	ENSP00000244364:R1834Q;ENSP00000359790:R4426Q;ENSP00000359805:R4248Q;ENSP00000400883:R2160Q;ENSP00000393645:R3922Q;ENSP00000359824:R2160Q;ENSP00000354508:R4246Q	ENSP00000244364:R1834Q	R	-	2	0	DST	56545688	1.000000	0.71417	0.908000	0.35775	0.904000	0.53231	5.518000	0.67068	2.730000	0.93505	0.650000	0.86243	CGG	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.388	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	183	0.00	0	C	NM_001723		56437729	56437729	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	152	23.23	46	SNP	0.993	T
EP300	2033	genome.wustl.edu	37	22	41545883	41545883	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr22:41545883C>T	ENST00000263253.7	+	14	3717	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	833					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AATTCACCCTCGCCTGTACCT	0.572			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													97.0	63.0	74.0					22																	41545883		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2498C>T	22.37:g.41545883C>T	ENSP00000263253:p.Ser833Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S833L	ENST00000263253.7	37	c.2498	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389535	0.82902	.	.	ENSG00000100393	ENST00000263253	D	0.84298	-1.83	6.08	6.08	0.98989	.	0.000000	0.47852	D	0.000207	D	0.85852	0.5793	N	0.08118	0	0.58432	D	0.999992	D	0.89917	1.0	D	0.79108	0.992	D	0.87059	0.2152	10	0.44086	T	0.13	-11.5588	20.6721	0.99693	0.0:1.0:0.0:0.0	.	833	Q09472	EP300_HUMAN	L	833	ENSP00000263253:S833L	ENSP00000263253:S833L	S	+	2	0	EP300	39875829	1.000000	0.71417	0.951000	0.38953	0.891000	0.51852	6.899000	0.75682	2.894000	0.99253	0.591000	0.81541	TCG	EP300	-	NULL	ENSG00000100393		0.572	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	46	0.00	0	C	NM_001429		41545883	41545883	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	1.000	T
ERBB2	2064	genome.wustl.edu	37	17	37880220	37880220	+	Missense_Mutation	SNP	T	T	C	rs121913470|rs121913469		TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr17:37880220T>C	ENST00000269571.5	+	19	2423	c.2264T>C	c.(2263-2265)tTg>tCg	p.L755S	ERBB2_ENST00000584450.1_Missense_Mutation_p.L755S|ERBB2_ENST00000584601.1_Missense_Mutation_p.L725S|ERBB2_ENST00000406381.2_Missense_Mutation_p.L725S|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.L740S|ERBB2_ENST00000445658.2_Missense_Mutation_p.L479S|ERBB2_ENST00000540147.1_Missense_Mutation_p.L725S			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	755	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		L -> P (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:15457249}.		axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.L755S(10)|p.L755P(2)|p.L755_S760>A(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ATCAAAGTGTTGAGGGAAAAC	0.532	L755S(LN229_CENTRAL_NERVOUS_SYSTEM)	1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	13	Substitution - Missense(12)|Complex - insertion inframe(1)	breast(7)|lung(3)|stomach(2)|large_intestine(1)											112.0	97.0	102.0					17																	37880220		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2264T>C	17.37:g.37880220T>C	ENSP00000269571:p.Leu755Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L755S	ENST00000269571.5	37	c.2264	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	T	32	5.190536	0.94923	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29;-0.29	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.83644	0.5299	M	0.86740	2.835	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	0.86913	0.2062	9	0.87932	D	0	.	14.7238	0.69329	0.0:0.0:0.0:1.0	.	479;740;755	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	S	725;740;479;755;725	ENSP00000385185:L725S;ENSP00000446466:L740S;ENSP00000404047:L479S;ENSP00000269571:L755S;ENSP00000443562:L725S	ENSP00000269571:L755S	L	+	2	0	ERBB2	35133746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	1.955000	0.56771	0.379000	0.24179	TTG	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000141736		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	72	0.00	0	T			37880220	37880220	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	83	34.65	44	SNP	1.000	C
ERVMER34-1	100288413	genome.wustl.edu	37	4	53610788	53610789	+	Frame_Shift_Ins	INS	-	-	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr4:53610788_53610789insA	ENST00000443173.1	-	3	1759_1760	c.899_900insT	c.(898-900)ttgfs	p.L300fs	ERVMER34-1_ENST00000454756.2_Intron|ERVMER34-1_ENST00000540758.1_Frame_Shift_Ins_p.L300fs|ERVMER34-1_ENST00000440542.1_Frame_Shift_Ins_p.L300fs	NM_001242690.1	NP_001229619.1	Q9H9K5	MER34_HUMAN	endogenous retrovirus group MER34, member 1	300						integral component of membrane (GO:0016021)|viral envelope (GO:0019031)				endometrium(3)|kidney(1)	4						cattgccgcacaaaaaaaagag	0.49																																						dbGAP											0									,	3,2795		0,3,1396					,	-1.8	0.0			72	7,4583		2,3,2290	no	frameshift,frameshift	ERVMER34-1	NM_024534.5,NM_001242690.1	,	2,6,3686	A1A1,A1R,RR		0.1525,0.1072,0.1354	,	,		10,7378				-	-	-	SO:0001589	frameshift_variant	0					4q12	2011-10-20			ENSG00000226887	ENSG00000226887			42970	other	endogenous retrovirus							Standard	NM_024534		Approved		uc003gzs.3	Q9H9K5	OTTHUMG00000150366	ENST00000443173.1:c.900dupT	4.37:g.53610796_53610796dupA	ENSP00000460602:p.Leu300fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KTB4|Q0P5R3|Q6NWN0	Frame_Shift_Ins	INS	pfam_TLV/ENV_coat_polyprotein	p.L300fs	ENST00000443173.1	37	c.900_899		4																																																																																			ERVMER34-1	-	NULL	ENSG00000226887		0.490	ERVMER34-1-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	ERVMER34-1	HGNC	protein_coding	OTTHUMT00000317860.2	65	0.00	0	-	NM_024534		53610788	53610789	-1	no_errors	ENST00000440542	ensembl	human	known	69_37n	frame_shift_ins	61	16.44	12	INS	0.001:0.001	A
FAM45B	55855	genome.wustl.edu	37	X	129629609	129629609	+	lincRNA	SNP	C	C	G			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chrX:129629609C>G	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							CTGGCTCCATCAAAGACATTG	0.438																																						dbGAP											0													122.0	111.0	115.0					X																	129629609		2203	4300	6503	-	-	-			0																															X.37:g.129629609C>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000458525.1	37	NULL		X																																																																																			FAM45B	-	-	ENSG00000221930		0.438	RP1-274L7.1-001	KNOWN	basic	lincRNA	FAM45B	HGNC	lincRNA	OTTHUMT00000058271.1	130	0.00	0	C			129629609	129629609	+1	no_errors	ENST00000592932	ensembl	human	known	69_37n	rna	97	29.50	41	SNP	0.996	G
F8	2157	genome.wustl.edu	37	X	154182270	154182270	+	Silent	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chrX:154182270C>T	ENST00000360256.4	-	12	2000	c.1800G>A	c.(1798-1800)gaG>gaA	p.E600E		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	600	F5/8 type A 2.|Plastocyanin-like 4.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGCTTCGGTTCTCATCAAATA	0.428																																						dbGAP											0			GRCh37	CM080293	F8	M							202.0	182.0	189.0					X																	154182270		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.1800G>A	X.37:g.154182270C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14286|Q5HY69	Silent	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E600	ENST00000360256.4	37	c.1800	CCDS35457.1	X																																																																																			F8	-	superfamily_Cupredoxin	ENSG00000185010		0.428	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	103	0.00	0	C			154182270	154182270	-1	no_errors	ENST00000360256	ensembl	human	known	69_37n	silent	69	28.87	28	SNP	1.000	T
SPATA31D5P	347127	genome.wustl.edu	37	9	84532651	84532651	+	RNA	SNP	T	T	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr9:84532651T>A	ENST00000527857.1	+	0	2673					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		CAAAATCTGGTAGCATTGGTG	0.433																																						dbGAP											0																																										-	-	-			0					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532651T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			FAM75D5	-	-	ENSG00000240632		0.433	SPATA31D5P-002	KNOWN	basic	processed_transcript	FAM75D5	HGNC	pseudogene	OTTHUMT00000052810.2	86	0.00	0	T	NR_026851		84532651	84532651	+1	no_errors	ENST00000527857	ensembl	human	known	69_37n	rna	64	32.63	31	SNP	0.000	A
FAM78B	149297	genome.wustl.edu	37	1	166135414	166135414	+	Silent	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr1:166135414G>A	ENST00000338353.3	-	2	661	c.72C>T	c.(70-72)tgC>tgT	p.C24C	FAM78B_ENST00000354422.3_Silent_p.C24C|RP11-9L18.3_ENST00000451784.1_RNA			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	24										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CGATGGTGGCGCACACATCGT	0.662																																						dbGAP											0													76.0	53.0	61.0					1																	166135414		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.72C>T	1.37:g.166135414G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z693	Missense_Mutation	SNP	NULL	p.R17C	ENST00000338353.3	37	c.49	CCDS30931.1	1																																																																																			FAM78B	-	NULL	ENSG00000188859		0.662	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78B	HGNC	protein_coding	OTTHUMT00000343108.1	27	0.00	0	G	NM_001017961		166135414	166135414	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000435676	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	A
GPR142	350383	genome.wustl.edu	37	17	72366697	72366697	+	Silent	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr17:72366697C>T	ENST00000335666.4	+	3	444	c.396C>T	c.(394-396)caC>caT	p.H132H		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	132			H -> N (in dbSNP:rs2382647). {ECO:0000269|PubMed:12679517}.			cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCACGCCCCACGTCAGCGGGC	0.622																																						dbGAP											0													63.0	52.0	56.0					17																	72366697		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.396C>T	17.37:g.72366697C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4CYJ8|Q86SL3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.H132	ENST00000335666.4	37	c.396	CCDS11698.1	17																																																																																			GPR142	-	NULL	ENSG00000257008		0.622	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	58	0.00	0	C	NM_181790		72366697	72366697	+1	no_errors	ENST00000335666	ensembl	human	known	69_37n	silent	57	33.33	29	SNP	0.025	T
GPR97	222487	genome.wustl.edu	37	16	57710130	57710130	+	Silent	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr16:57710130G>A	ENST00000333493.4	+	3	386	c.225G>A	c.(223-225)gaG>gaA	p.E75E	GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Intron	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	75					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAAACTACGAGGCCCATCTGA	0.542																																						dbGAP											0													97.0	75.0	82.0					16																	57710130		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.225G>A	16.37:g.57710130G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.E75	ENST00000333493.4	37	c.225	CCDS10786.1	16																																																																																			GPR97	-	NULL	ENSG00000182885		0.542	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR97	HGNC	protein_coding	OTTHUMT00000257333.2	65	0.00	0	G	NM_170776		57710130	57710130	+1	no_errors	ENST00000333493	ensembl	human	known	69_37n	silent	40	13.04	6	SNP	0.385	A
GPSM1	26086	genome.wustl.edu	37	9	139229013	139229013	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr9:139229013G>A	ENST00000440944.1	+	2	398	c.178G>A	c.(178-180)Gag>Aag	p.E60K	GPSM1_ENST00000392945.3_Missense_Mutation_p.E60K	NM_001145638.1	NP_001139110	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	60	Mediates association with membranes. {ECO:0000250}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GDP-dissociation inhibitor activity (GO:0005092)			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGTGGGCACCGAGGACCTGAA	0.622																																						dbGAP											0													71.0	66.0	68.0					9																	139229013		2203	4300	6503	-	-	-	SO:0001583	missense	0			AI272212	CCDS6996.2, CCDS48055.1, CCDS48056.1	9q34.3	2013-01-10	2010-06-24		ENSG00000160360	ENSG00000160360		"""Tetratricopeptide (TTC) repeat domain containing"""	17858	protein-coding gene	gene with protein product	"""AGS3 homolog (C. elegans)"""	609491	"""G-protein signalling modulator 1 (AGS3-like, C. elegans)"""			11278352, 10969064	Standard	NM_001145639		Approved	AGS3, DKFZP727I051	uc004chd.2	Q86YR5	OTTHUMG00000020930	ENST00000440944.1:c.178G>A	9.37:g.139229013G>A	ENSP00000392828:p.Glu60Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A9Z1X4|B1B0W3|Q86SR5|Q969T1|Q9UFS8	Missense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E60K	ENST00000440944.1	37	c.178	CCDS48055.1	9	.	.	.	.	.	.	.	.	.	.	g	26.9	4.784219	0.90282	.	.	ENSG00000160360	ENST00000392945;ENST00000440944;ENST00000354753	T;T;T	0.74947	-0.89;-0.89;-0.07	4.53	4.53	0.55603	Tetratricopeptide-like helical (1);	0.000000	0.85682	U	0.000000	D	0.82273	0.5001	L	0.55990	1.75	0.80722	D	1	D;P	0.76494	0.999;0.918	D;B	0.65323	0.934;0.401	D	0.84699	0.0727	10	0.72032	D	0.01	-19.0371	16.264	0.82565	0.0:0.0:1.0:0.0	.	60;60	Q86YR5;Q86YR5-3	GPSM1_HUMAN;.	K	60;60;37	ENSP00000376674:E60K;ENSP00000392828:E60K;ENSP00000346797:E37K	ENSP00000346797:E37K	E	+	1	0	GPSM1	138348834	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	7.617000	0.83032	2.049000	0.60858	0.556000	0.70494	GAG	GPSM1	-	NULL	ENSG00000160360		0.622	GPSM1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM1	HGNC	protein_coding		33	0.00	0	G	NM_015597		139229013	139229013	+1	no_errors	ENST00000440944	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	1.000	A
GRID1	2894	genome.wustl.edu	37	10	87379751	87379751	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr10:87379751C>T	ENST00000327946.7	-	14	2318	c.2233G>A	c.(2233-2235)Gtg>Atg	p.V745M	GRID1_ENST00000536331.1_Missense_Mutation_p.V316M	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	745					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TATTCCACCACGGCCACATCC	0.552										Multiple Myeloma(13;0.14)																												dbGAP											0													130.0	93.0	106.0					10																	87379751		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2233G>A	10.37:g.87379751C>T	ENSP00000330148:p.Val745Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V745M	ENST00000327946.7	37	c.2233	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346605	0.61073	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.32988	1.43;1.43	5.28	5.28	0.74379	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.35793	1.09	0.80722	D	1	D	0.71674	0.998	P	0.57776	0.827	T	0.04915	-1.0918	10	0.06625	T	0.88	.	17.9081	0.88926	0.0:1.0:0.0:0.0	.	745	Q9ULK0	GRID1_HUMAN	M	745;316	ENSP00000330148:V745M;ENSP00000444455:V316M	ENSP00000330148:V745M	V	-	1	0	GRID1	87369731	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	4.954000	0.63631	2.454000	0.82982	0.561000	0.74099	GTG	GRID1	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000182771		0.552	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	52	0.00	0	C	XM_043613		87379751	87379751	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	missense	44	27.87	17	SNP	1.000	T
HTR2A	3356	genome.wustl.edu	37	13	47409635	47409635	+	Silent	SNP	C	C	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr13:47409635C>A	ENST00000378688.4	-	3	884	c.753G>T	c.(751-753)gtG>gtT	p.V251V	HTR2A_ENST00000543956.1_Silent_p.V167V|HTR2A_ENST00000542664.1_Silent_p.V251V			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	251					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGTAGGTGATCACCATGATGG	0.433																																						dbGAP											0													81.0	78.0	79.0					13																	47409635		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.753G>T	13.37:g.47409635C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.V251	ENST00000378688.4	37	c.753	CCDS9405.1	13																																																																																			HTR2A	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000102468		0.433	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	30	0.00	0	C	NM_000621		47409635	47409635	-1	no_errors	ENST00000378688	ensembl	human	known	69_37n	silent	31	27.91	12	SNP	1.000	A
INPP4A	3631	genome.wustl.edu	37	2	99204011	99204011	+	Silent	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr2:99204011G>A	ENST00000523221.1	+	24	2874	c.2874G>A	c.(2872-2874)ctG>ctA	p.L958L	INPP4A_ENST00000074304.5_Silent_p.L958L|INPP4A_ENST00000409851.3_Silent_p.L953L|INPP4A_ENST00000545415.1_Silent_p.L919L|INPP4A_ENST00000409016.4_Silent_p.L919L|INPP4A_ENST00000409463.1_Silent_p.L287L			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	958					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCCTGCAGCTGAAGGCTTTCC	0.413																																						dbGAP											0													98.0	95.0	96.0					2																	99204011		1868	4098	5966	-	-	-	SO:0001819	synonymous_variant	0			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2874G>A	2.37:g.99204011G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O15326|Q13187|Q53TD8|Q8TC02	Silent	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L958	ENST00000523221.1	37	c.2874	CCDS46369.1	2																																																																																			INPP4A	-	NULL	ENSG00000040933		0.413	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	83	0.00	0	G	NM_001566		99204011	99204011	+1	no_errors	ENST00000074304	ensembl	human	known	69_37n	silent	47	25.00	16	SNP	1.000	A
ISLR	3671	genome.wustl.edu	37	15	74468296	74468296	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr15:74468296G>A	ENST00000249842.3	+	2	1454	c.1097G>A	c.(1096-1098)gGa>gAa	p.G366E	RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Missense_Mutation_p.G366E	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	366					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCGGTTGAGGGAAAGGGCTGC	0.622																																						dbGAP											0													105.0	84.0	91.0					15																	74468296		2198	4297	6495	-	-	-	SO:0001583	missense	0			AB003184	CCDS10260.1	15q23-q24	2013-01-11			ENSG00000129009	ENSG00000129009		"""Immunoglobulin superfamily / I-set domain containing"""	6133	protein-coding gene	gene with protein product		602059				9325048	Standard	NM_005545		Approved	HsT17563	uc002axh.1	O14498	OTTHUMG00000137623	ENST00000249842.3:c.1097G>A	15.37:g.74468296G>A	ENSP00000249842:p.Gly366Glu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub2,pfscan_Ig-like	p.G366E	ENST00000249842.3	37	c.1097	CCDS10260.1	15	.	.	.	.	.	.	.	.	.	.	G	14.83	2.651360	0.47362	.	.	ENSG00000129009	ENST00000249842;ENST00000395118	T;T	0.67698	-0.28;-0.28	4.48	4.48	0.54585	.	0.000000	0.43919	U	0.000511	T	0.45458	0.1343	N	0.19112	0.55	0.30344	N	0.785432	B	0.33318	0.408	B	0.28139	0.086	T	0.41822	-0.9487	10	0.07325	T	0.83	.	13.7583	0.62950	0.0:0.1549:0.8451:0.0	.	366	O14498	ISLR_HUMAN	E	366	ENSP00000249842:G366E;ENSP00000378550:G366E	ENSP00000249842:G366E	G	+	2	0	ISLR	72255349	0.989000	0.36119	0.996000	0.52242	0.523000	0.34469	2.141000	0.42168	2.047000	0.60756	0.313000	0.20887	GGA	ISLR	-	NULL	ENSG00000129009		0.622	ISLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR	HGNC	protein_coding	OTTHUMT00000269044.1	64	0.00	0	G	NM_005545		74468296	74468296	+1	no_errors	ENST00000249842	ensembl	human	known	69_37n	missense	36	20.00	9	SNP	0.962	A
KLHL17	339451	genome.wustl.edu	37	1	897038	897038	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr1:897038G>A	ENST00000338591.3	+	3	504	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	NOC2L_ENST00000487214.1_5'Flank|NOC2L_ENST00000327044.6_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	133	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCAGACCCACGTGACGCTGCA	0.667																																						dbGAP											0													94.0	88.0	90.0					1																	897038		2201	4298	6499	-	-	-	SO:0001583	missense	0			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.397G>A	1.37:g.897038G>A	ENSP00000343930:p.Val133Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5SV94	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,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.V133M	ENST00000338591.3	37	c.397	CCDS30550.1	1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.439896	0.83885	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	T	0.70045	-0.45	4.71	4.71	0.59529	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.85323	0.5670	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	D	0.88911	0.3359	10	0.87932	D	0	.	18.0411	0.89319	0.0:0.0:1.0:0.0	.	9;9;133	B3KXL7;Q86XA8;Q6TDP4	.;.;KLH17_HUMAN	M	133;9	ENSP00000343930:V133M	ENSP00000343930:V133M	V	+	1	0	KLHL17	886901	1.000000	0.71417	0.908000	0.35775	0.851000	0.48451	6.657000	0.74402	2.349000	0.79799	0.491000	0.48974	GTG	KLHL17	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000187961		0.667	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL17	HGNC	protein_coding	OTTHUMT00000097875.3	51	0.00	0	G	NM_198317		897038	897038	+1	no_errors	ENST00000338591	ensembl	human	known	69_37n	missense	29	25.64	10	SNP	1.000	A
KRT6B	3854	genome.wustl.edu	37	12	52844244	52844244	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr12:52844244C>T	ENST00000252252.3	-	2	748	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	234	Coil 1B.|Rod.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGAGTCCAGACGACCCCGTTC	0.557																																						dbGAP											0													210.0	183.0	192.0					12																	52844244		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.701G>A	12.37:g.52844244C>T	ENSP00000252252:p.Arg234His	Somatic		WXS	Illumina GAIIx	Phase_IV	P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.R234H	ENST00000252252.3	37	c.701	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307550	0.40795	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.90563	-2.69	2.77	1.4	0.22301	Filament (1);	0.120124	0.35677	N	0.003051	D	0.92071	0.7487	M	0.91140	3.18	0.31885	N	0.617961	B	0.33120	0.398	B	0.39971	0.315	D	0.91138	0.4943	10	0.66056	D	0.02	.	8.4305	0.32755	0.0:0.8358:0.0:0.1642	.	234	P04259	K2C6B_HUMAN	H	234	ENSP00000252252:R234H	ENSP00000252252:R234H	R	-	2	0	KRT6B	51130511	0.000000	0.05858	0.195000	0.23364	0.022000	0.10575	-2.583000	0.00904	0.419000	0.25927	0.298000	0.19748	CGT	KRT6B	-	pfam_F	ENSG00000185479		0.557	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	171	0.00	0	C	NM_005555		52844244	52844244	-1	no_errors	ENST00000252252	ensembl	human	known	69_37n	missense	166	20.95	44	SNP	0.801	T
LOXL3	84695	genome.wustl.edu	37	2	74763222	74763222	+	Silent	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr2:74763222G>A	ENST00000264094.3	-	7	1220	c.1149C>T	c.(1147-1149)ctC>ctT	p.L383L	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Silent_p.L238L|LOXL3_ENST00000409549.1_Silent_p.L383L|LOXL3_ENST00000393937.2_Silent_p.L238L	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	383	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						GGCACTTCCAGAGGGAGAGCT	0.542																																						dbGAP											0													86.0	87.0	86.0					2																	74763222		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1149C>T	2.37:g.74763222G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.L383	ENST00000264094.3	37	c.1149	CCDS1953.1	2																																																																																			LOXL3	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	ENSG00000115318		0.542	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL3	HGNC	protein_coding	OTTHUMT00000252215.1	34	0.00	0	G	NM_032603		74763222	74763222	-1	no_errors	ENST00000264094	ensembl	human	known	69_37n	silent	32	30.43	14	SNP	1.000	A
LRRC41	10489	genome.wustl.edu	37	1	46751244	46751244	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr1:46751244C>T	ENST00000343304.6	-	4	1570	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	429				E -> K (in Ref. 6; AAQ15266). {ECO:0000305}.	protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATCTCCATCTCTTCGCCATCC	0.552																																						dbGAP											0													102.0	95.0	97.0					1																	46751244		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1285G>A	1.37:g.46751244C>T	ENSP00000343298:p.Glu429Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E429K	ENST00000343304.6	37	c.1285	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.954960	0.34471	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	T	0.47869	0.83	5.14	4.19	0.49359	.	0.420938	0.22014	N	0.065826	T	0.25306	0.0615	N	0.14661	0.345	0.24793	N	0.992745	P;P;B	0.41450	0.6;0.75;0.426	B;B;B	0.36808	0.168;0.233;0.098	T	0.14615	-1.0466	10	0.62326	D	0.03	-0.2048	4.7825	0.13210	0.0:0.6121:0.1945:0.1934	.	429;407;429	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	K	429;407	ENSP00000343298:E429K	ENSP00000343298:E429K	E	-	1	0	LRRC41	46523831	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	2.510000	0.45468	2.419000	0.82065	0.444000	0.29173	GAG	LRRC41	-	NULL	ENSG00000132128		0.552	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	45	0.00	0	C	NM_006369		46751244	46751244	-1	no_errors	ENST00000343304	ensembl	human	known	69_37n	missense	47	12.96	7	SNP	0.994	T
MBTD1	54799	genome.wustl.edu	37	17	49297759	49297761	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr17:49297759_49297761delAGA	ENST00000586178.1	-	4	561_563	c.218_220delTCT	c.(217-222)ttctgt>tgt	p.F73del	MBTD1_ENST00000415868.1_In_Frame_Del_p.F73del|MBTD1_ENST00000376381.2_In_Frame_Del_p.F73del	NM_017643.2	NP_060113.2	Q05BQ5	MBTD1_HUMAN	mbt domain containing 1	73					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)			GAAACGCTACAGAAACGCTTTGT	0.394																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			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.218_220delTCT	17.37:g.49297759_49297761delAGA	ENSP00000468304:p.Phe73del	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZVU7|Q9NXU1	In_Frame_Del	DEL	pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS	p.F73in_frame_del	ENST00000586178.1	37	c.220_218	CCDS11581.2	17																																																																																			MBTD1	-	pfscan_Znf_FCS	ENSG00000011258		0.394	MBTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTD1	HGNC	protein_coding	OTTHUMT00000318124.1	118	0.00	0	AGA			49297759	49297761	-1	no_errors	ENST00000415868	ensembl	human	known	69_37n	in_frame_del	66	44.72	55	DEL	1.000:1.000:1.000	-
MED12L	116931	genome.wustl.edu	37	3	151075105	151075105	+	Silent	SNP	C	C	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr3:151075105C>A	ENST00000474524.1	+	18	2699	c.2661C>A	c.(2659-2661)ctC>ctA	p.L887L	MED12L_ENST00000273432.4_Silent_p.L747L|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	887						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGCTGTTCTCAGGCGCTATC	0.448																																						dbGAP											0													127.0	108.0	115.0					3																	151075105		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.2661C>A	3.37:g.151075105C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.L887	ENST00000474524.1	37	c.2661	CCDS33876.1	3																																																																																			MED12L	-	NULL	ENSG00000144893		0.448	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	95	0.00	0	C	NM_053002		151075105	151075105	+1	no_errors	ENST00000474524	ensembl	human	known	69_37n	silent	73	26.26	26	SNP	0.999	A
MED23	9439	genome.wustl.edu	37	6	131912640	131912640	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr6:131912640G>A	ENST00000368068.3	-	26	3678	c.3499C>T	c.(3499-3501)Cga>Tga	p.R1167*	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Nonsense_Mutation_p.R1173*|MED23_ENST00000545957.1_Nonsense_Mutation_p.R808*|MED23_ENST00000368058.1_Nonsense_Mutation_p.R1173*|MED23_ENST00000368060.3_Nonsense_Mutation_p.R1167*|MED23_ENST00000403834.3_Nonsense_Mutation_p.R1173*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1167					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTCACAATTCGATCATGAAGA	0.433																																						dbGAP											0													95.0	85.0	88.0					6																	131912640		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.3499C>T	6.37:g.131912640G>A	ENSP00000357047:p.Arg1167*	Somatic		WXS	Illumina GAIIx	Phase_IV	B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	pfam_Mediator_Med23	p.R1173*	ENST00000368068.3	37	c.3517	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	G	40	8.047162	0.98627	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000545957	.	.	.	5.6	4.72	0.59763	.	0.121364	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9439	10.8021	0.46495	0.0691:0.0:0.7996:0.1314	.	.	.	.	X	1173;1167;1173;1167;1173;808	.	ENSP00000346588:R1173X	R	-	1	2	MED23	131954333	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.724000	0.74747	1.337000	0.45525	0.563000	0.77884	CGA	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.433	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	38	0.00	0	G			131912640	131912640	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	nonsense	20	39.39	13	SNP	1.000	A
MLLT4	4301	genome.wustl.edu	37	6	168352584	168352584	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr6:168352584G>A	ENST00000447894.2	+	29	4529	c.4529G>A	c.(4528-4530)aGt>aAt	p.S1510N	MLLT4_ENST00000392108.3_Missense_Mutation_p.S1510N|MLLT4_ENST00000366806.2_Missense_Mutation_p.S1510N|MLLT4_ENST00000351017.4_Missense_Mutation_p.S1517N|MLLT4_ENST00000392112.1_Missense_Mutation_p.S1493N|MLLT4_ENST00000400822.3_Missense_Mutation_p.S1509N|MLLT4_ENST00000344191.4_Missense_Mutation_p.S1510N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1510					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCGGGGGACAGTCTGTCCCCC	0.602			T	MLL	AL																																	dbGAP		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													33.0	41.0	38.0					6																	168352584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4529G>A	6.37:g.168352584G>A	ENSP00000404595:p.Ser1510Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.S1510N	ENST00000447894.2	37	c.4529		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.24|16.24	3.067683|3.067683	0.55539|0.55539	.|.	.|.	ENSG00000130396|ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894|ENST00000507704	T;T;T;T;T;T;T|.	0.05319|.	3.67;3.59;3.66;3.69;3.46;3.6;3.59|.	5.19|5.19	4.32|4.32	0.51571|0.51571	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63283|0.63283	0.2498|0.2498	M|M	0.72479|0.72479	2.2|2.2	0.54753|0.54753	D|D	0.999981|0.999981	D;D;D;D|.	0.76494|.	0.997;0.999;0.997;0.997|.	D;D;D;D|.	0.85130|.	0.985;0.997;0.99;0.99|.	T|T	0.65261|0.65261	-0.6211|-0.6211	10|5	0.49607|.	T|.	0.09|.	-0.4895|-0.4895	13.8191|13.8191	0.63309|0.63309	0.0738:0.0:0.9262:0.0|0.0738:0.0:0.9262:0.0	.|.	1510;1509;1510;1494|.	P55196;P55196-5;P55196-6;P55196-2|.	AFAD_HUMAN;.;.;.|.	N|I	1510;1517;1510;1510;1493;1510;1509;1510|1	ENSP00000341118:S1510N;ENSP00000252692:S1517N;ENSP00000375956:S1510N;ENSP00000355771:S1510N;ENSP00000375960:S1493N;ENSP00000383623:S1509N;ENSP00000404595:S1510N|.	ENSP00000345834:S1510N|.	S|V	+|+	2|1	0|0	MLLT4|MLLT4	168095433|168095433	1.000000|1.000000	0.71417|0.71417	0.690000|0.690000	0.30148|0.30148	0.113000|0.113000	0.19764|0.19764	7.158000|7.158000	0.77470|0.77470	1.177000|1.177000	0.42855|0.42855	0.655000|0.655000	0.94253|0.94253	AGT|GTC	MLLT4	-	NULL	ENSG00000130396		0.602	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	24	0.00	0	G	NM_005936		168352584	168352584	+1	no_errors	ENST00000366806	ensembl	human	known	69_37n	missense	9	59.09	13	SNP	1.000	A
MXRA5	25878	genome.wustl.edu	37	X	3238221	3238221	+	Missense_Mutation	SNP	C	C	A	rs200995587		TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chrX:3238221C>A	ENST00000217939.6	-	5	5659	c.5505G>T	c.(5503-5505)aaG>aaT	p.K1835N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1835						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)				CTGCAAAGAACTTTGAGCTGC	0.493																																						dbGAP											0													86.0	83.0	84.0					X																	3238221		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.5505G>T	X.37:g.3238221C>A	ENSP00000217939:p.Lys1835Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	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	p.K1835N	ENST00000217939.6	37	c.5505	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	c	1.557	-0.537684	0.04082	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.63744	-0.06	3.53	2.37	0.29283	.	0.000000	0.40728	U	0.001039	T	0.27419	0.0673	N	0.08118	0	0.09310	N	1	P	0.43094	0.799	B	0.34093	0.175	T	0.16600	-1.0397	10	0.13108	T	0.6	.	2.4645	0.04549	0.2383:0.1979:0.0:0.5638	.	1835	Q9NR99	MXRA5_HUMAN	N	1835	ENSP00000217939:K1835N	ENSP00000217939:K1835N	K	-	3	2	MXRA5	3248221	0.695000	0.27747	0.011000	0.14972	0.047000	0.14425	1.229000	0.32600	0.347000	0.23924	0.464000	0.42555	AAG	MXRA5	-	NULL	ENSG00000101825		0.493	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	66	0.00	0	C	NM_015419		3238221	3238221	-1	no_errors	ENST00000217939	ensembl	human	known	69_37n	missense	59	28.05	23	SNP	0.234	A
MYO1C	4641	genome.wustl.edu	37	17	1374587	1374587	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr17:1374587G>A	ENST00000575158.1	-	20	2136	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	MYO1C_ENST00000361007.2_Missense_Mutation_p.R654W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R665W|MYO1C_ENST00000359786.5_Missense_Mutation_p.R689W|MYO1C_ENST00000438665.2_Missense_Mutation_p.R670W			Q12965	MYO1E_HUMAN	myosin IC	650	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCTGCGGCCGTCCTGCCCAC	0.672																																						dbGAP											0													46.0	41.0	42.0					17																	1374587		2203	4299	6502	-	-	-	SO:0001583	missense	0			X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1960C>T	17.37:g.1374587G>A	ENSP00000459174:p.Arg654Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14778	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R689W	ENST00000575158.1	37	c.2065	CCDS11003.1	17	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376275	0.61735	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66	5.15	4.15	0.48705	Myosin head, motor domain (2);	0.425059	0.23977	N	0.042714	T	0.78368	0.4272	L	0.54323	1.7	0.44462	D	0.997398	D;D;D	0.76494	0.999;0.999;0.998	P;P;P	0.61658	0.892;0.892;0.827	T	0.80120	-0.1515	10	0.72032	D	0.01	.	13.8331	0.63393	0.0:0.0:0.8459:0.1541	.	665;689;670	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	W	689;670;670;654;665;654	ENSP00000352834:R689W;ENSP00000412197:R670W;ENSP00000354283:R654W;ENSP00000437685:R665W	ENSP00000352834:R689W	R	-	1	2	MYO1C	1321337	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	4.018000	0.57174	1.114000	0.41781	0.558000	0.71614	CGG	MYO1C	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000197879		0.672	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1C	HGNC	protein_coding	OTTHUMT00000438694.2	27	0.00	0	G			1374587	1374587	-1	no_errors	ENST00000359786	ensembl	human	known	69_37n	missense	6	57.14	8	SNP	1.000	A
NLGN4X	57502	genome.wustl.edu	37	X	5811184	5811184	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chrX:5811184T>A	ENST00000381095.3	-	6	2752	c.2125A>T	c.(2125-2127)Agg>Tgg	p.R709W	NLGN4X_ENST00000538097.1_Missense_Mutation_p.R709W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R729W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R709W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R709W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	709					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CTGGGGCGCCTGTGAGTCTCA	0.527																																						dbGAP											0													121.0	99.0	107.0					X																	5811184		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2125A>T	X.37:g.5811184T>A	ENSP00000370485:p.Arg709Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6UX10|Q9ULG0	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.R729W	ENST00000381095.3	37	c.2185	CCDS14126.1	X	.	.	.	.	.	.	.	.	.	.	T	10.51	1.371540	0.24771	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.69040	-0.36;-0.37;-0.36;-0.36;-0.36	3.81	-7.61	0.01299	.	1.830660	0.04053	N	0.305066	T	0.80276	0.4593	M	0.78456	2.415	0.39990	D	0.975021	D;D;D	0.67145	0.996;0.983;0.99	P;P;P	0.60886	0.88;0.682;0.831	T	0.80982	-0.1139	10	0.87932	D	0	.	19.1947	0.93682	0.0:0.0:0.8037:0.1963	.	766;709;729	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	709;729;709;709;709	ENSP00000370485:R709W;ENSP00000370483:R729W;ENSP00000275857:R709W;ENSP00000370482:R709W;ENSP00000439203:R709W	ENSP00000275857:R709W	R	-	1	2	NLGN4X	5821184	0.987000	0.35691	0.123000	0.21794	0.098000	0.18820	0.008000	0.13197	-1.858000	0.01158	-0.540000	0.04249	AGG	NLGN4X	-	NULL	ENSG00000146938		0.527	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	NLGN4X	HGNC	protein_coding	OTTHUMT00000055673.1	135	0.00	0	T	NM_020742		5811184	5811184	-1	no_errors	ENST00000381093	ensembl	human	known	69_37n	missense	75	31.19	34	SNP	0.452	A
NUDT12	83594	genome.wustl.edu	37	5	102888118	102888118	+	Splice_Site	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr5:102888118C>T	ENST00000230792.2	-	6	1175		c.e6-1		NUDT12_ENST00000507423.1_Splice_Site|NUDT12_ENST00000515407.1_5'Flank	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12						NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		ATTGTCTCTCCTAATGAAATG	0.438																																						dbGAP											0													147.0	138.0	141.0					5																	102888118		2202	4300	6502	-	-	-	SO:0001630	splice_region_variant	0			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.1079-1G>A	5.37:g.102888118C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUW2|Q8TAL7	Splice_Site	SNP	-	e5-1	ENST00000230792.2	37	c.1079-1	CCDS4096.1	5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521513	0.85600	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8594	0.96778	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUDT12	102916017	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.487000	0.81328	2.691000	0.91804	0.650000	0.86243	.	NUDT12	-	-	ENSG00000112874		0.438	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT12	HGNC	protein_coding	OTTHUMT00000250650.1	198	0.00	0	C	NM_031438	Intron	102888118	102888118	-1	no_errors	ENST00000230792	ensembl	human	known	69_37n	splice_site	125	26.90	46	SNP	1.000	T
OR4C15	81309	genome.wustl.edu	37	11	55322666	55322666	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr11:55322666C>A	ENST00000314644.2	+	1	884	c.884C>A	c.(883-885)tCt>tAt	p.S295Y		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	241						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						ACCTGTGGATCTCACATTGCT	0.428										HNSCC(20;0.049)																												dbGAP											0													238.0	226.0	231.0					11																	55322666		2201	4296	6497	-	-	-	SO:0001583	missense	0			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.884C>A	11.37:g.55322666C>A	ENSP00000324958:p.Ser295Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IFE2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S295Y	ENST00000314644.2	37	c.884	CCDS31501.1	11	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684276	0.68157	.	.	ENSG00000181939	ENST00000314644	T	0.39406	1.08	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.79753	0.4500	H	0.99379	4.54	0.36776	D	0.88407	D	0.76494	0.999	D	0.73708	0.981	D	0.90431	0.4424	9	0.87932	D	0	.	15.8636	0.79043	0.0:1.0:0.0:0.0	.	241	Q8NGM1	OR4CF_HUMAN	Y	295	ENSP00000324958:S295Y	ENSP00000324958:S295Y	S	+	2	0	OR4C15	55079242	0.168000	0.22989	0.954000	0.39281	0.620000	0.37586	3.831000	0.55776	2.608000	0.88229	0.385000	0.25706	TCT	OR4C15	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000181939		0.428	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C15	HGNC	protein_coding	OTTHUMT00000391164.1	177	0.00	0	C	NM_001001920		55322666	55322666	+1	no_errors	ENST00000314644	ensembl	human	known	69_37n	missense	124	28.32	49	SNP	0.998	A
PCBP2	5094	genome.wustl.edu	37	12	53856277	53856278	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr12:53856277_53856278insC	ENST00000439930.3	+	7	539_540	c.517_518insC	c.(517-519)tccfs	p.S173fs	PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000546463.1_Splice_Site_p.S169fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000541275.1_Splice_Site_p.S169fs|PCBP2_ENST00000603815.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552296.2_Splice_Site_p.S169fs|PCBP2_ENST00000455667.3_Splice_Site_p.S169fs|PCBP2_ENST00000359282.5_Splice_Site_p.S169fs|PCBP2_ENST00000437231.1_Splice_Site_p.S169fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.S173fs|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.S173fs|RP11-793H13.8_ENST00000547717.1_RNA			Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	173					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of defense response to virus (GO:0050687)|negative regulation of type I interferon production (GO:0032480)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TCTCTCCCAGTCCCCCCCGAAG	0.5																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC035420	CCDS8859.1, CCDS44900.1, CCDS44901.1, CCDS44902.1, CCDS44903.1, CCDS44904.1, CCDS55830.1	12q13.13	2013-10-30	2001-11-28		ENSG00000197111	ENSG00000197111			8648	protein-coding gene	gene with protein product	"""heterogenous nuclear ribonucleoprotein E2"""	601210	"""poly(rC)-binding protein 2"""			8833161	Standard	NM_001098620		Approved	HNRPE2, hnRNP-E2, HNRNPE2	uc001sdc.4	Q15366	OTTHUMG00000169439	ENST00000439930.3:c.524dupC	12.37:g.53856284_53856284dupC	ENSP00000408949:p.Ser173fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7X6|F8VYL7|G3V0E8|I6L8F9|Q32Q82|Q59HD4|Q68Y55|Q6IPF4|Q6PKG5	Frame_Shift_Ins	INS	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.K172fs	ENST00000439930.3	37	c.505_506	CCDS44901.1	12																																																																																			PCBP2	-	NULL	ENSG00000197111		0.500	PCBP2-027	NOVEL	NAGNAG_splice_site|non_canonical_conserved|basic|CCDS	protein_coding	PCBP2	HGNC	protein_coding	OTTHUMT00000407545.2	45	0.00	0	-	NM_005016		53856277	53856278	+1	no_errors	ENST00000546463	ensembl	human	known	69_37n	frame_shift_ins	38	24.00	12	INS	1.000:1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	81	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	62	27.06	23	SNP	1.000	A
PKD1L3	342372	genome.wustl.edu	37	16	71967361	71967361	+	RNA	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr16:71967361C>T	ENST00000534738.1	-	0	4883				RP11-498D10.6_ENST00000573861.1_RNA			Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						AGACCAACAACAGTCACTGCT	0.428																																						dbGAP											0													95.0	78.0	83.0					16																	71967361		692	1591	2283	-	-	-			0			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71967361C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-	ENSG00000187008		0.428	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	49	0.00	0	C	NM_181536		71967361	71967361	-1	no_errors	ENST00000335106	ensembl	human	known	69_37n	rna	48	15.79	9	SNP	0.036	T
PNLDC1	154197	genome.wustl.edu	37	6	160232782	160232782	+	Silent	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr6:160232782C>T	ENST00000610273.1	+	11	1041	c.870C>T	c.(868-870)ctC>ctT	p.L290L	PNLDC1_ENST00000392167.3_Silent_p.L301L	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	290						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTCCTGTTCTCATTGATACCA	0.378																																						dbGAP											0													127.0	127.0	127.0					6																	160232782		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.870C>T	6.37:g.160232782C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TAP7|Q8N7X5	Silent	SNP	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	p.L290	ENST00000610273.1	37	c.870	CCDS5271.1	6																																																																																			PNLDC1	-	pfam_RNase_CAF1,superfamily_RNaseH-like_dom	ENSG00000146453		0.378	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	HGNC	protein_coding		114	0.00	0	C	NM_173516		160232782	160232782	+1	no_errors	ENST00000275275	ensembl	human	known	69_37n	silent	53	57.26	71	SNP	1.000	T
RPS4X	6191	genome.wustl.edu	37	X	71494957	71494957	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chrX:71494957G>C	ENST00000316084.6	-	4	410	c.306C>G	c.(304-306)atC>atG	p.I102M	RPS4X_ENST00000486733.1_5'UTR|RPS4X_ENST00000373626.3_Missense_Mutation_p.I102M	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	102	S4 RNA-binding.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|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)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGGTGTCATAGATCAGACGGA	0.468																																						dbGAP											0													78.0	58.0	65.0					X																	71494957		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.306C>G	X.37:g.71494957G>C	ENSP00000362744:p.Ile102Met	Somatic		WXS	Illumina GAIIx	Phase_IV	P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	pfam_Ribosomal_S4e_central,pfam_Ribosomal_S4e_N,pfam_S4_RNA-bd,pfam_KOW,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	p.I102M	ENST00000316084.6	37	c.306	CCDS14418.1	X	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478337	0.44044	.	.	ENSG00000198034	ENST00000316084;ENST00000373626	.	.	.	4.74	3.82	0.43975	Ribosomal protein S4e, central (2);RNA-binding S4 (2);	0.069425	0.56097	D	0.000039	T	0.40145	0.1105	L	0.33668	1.02	0.48830	D	0.999715	B;B	0.31459	0.324;0.181	B;B	0.35607	0.142;0.206	T	0.19976	-1.0289	9	0.38643	T	0.18	.	6.509	0.22212	0.2451:0.0:0.7549:0.0	.	102;102	B7Z1M6;P62701	.;RS4X_HUMAN	M	102	.	ENSP00000362744:I102M	I	-	3	3	RPS4X	71411682	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.124000	0.42006	0.816000	0.34421	-0.380000	0.06706	ATC	RPS4X	-	pfam_Ribosomal_S4e_central,smart_S4_RNA-bd,pirsf_Ribosomal_S4e,pfscan_S4_RNA-bd	ENSG00000198034		0.468	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS4X	HGNC	protein_coding	OTTHUMT00000057188.1	120	0.00	0	G	NM_001007		71494957	71494957	-1	no_errors	ENST00000316084	ensembl	human	known	69_37n	missense	77	27.36	29	SNP	1.000	C
SEC23IP	11196	genome.wustl.edu	37	10	121663612	121663612	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr10:121663612G>C	ENST00000369075.3	+	4	996	c.924G>C	c.(922-924)gaG>gaC	p.E308D	SEC23IP_ENST00000543134.1_Missense_Mutation_p.E97D	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	308	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAGATCCGGAGAGCGTGGTTC	0.483																																						dbGAP											0													105.0	97.0	99.0					10																	121663612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.924G>C	10.37:g.121663612G>C	ENSP00000358071:p.Glu308Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.E308D	ENST00000369075.3	37	c.924	CCDS7618.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.81|12.81	2.050231|2.050231	0.36181|0.36181	.|.	.|.	ENSG00000107651|ENSG00000107651	ENST00000369075;ENST00000543134;ENST00000446561|ENST00000442952	T;T;T|.	0.48201|.	1.33;1.39;0.82|.	5.33|5.33	2.43|2.43	0.29744|0.29744	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.64136|0.64136	0.2571|0.2571	M|M	0.65975|0.65975	2.015|2.015	0.52501|0.52501	D|D	0.999954|0.999954	B;B|.	0.29671|.	0.254;0.103|.	B;B|.	0.24701|.	0.055;0.023|.	T|T	0.63386|0.63386	-0.6649|-0.6649	10|7	0.32370|0.42905	T|T	0.25|0.14	-25.3344|-25.3344	11.2565|11.2565	0.49056|0.49056	0.2101:0.0:0.7899:0.0|0.2101:0.0:0.7899:0.0	.|.	97;308|.	F5H0L8;Q9Y6Y8|.	.;S23IP_HUMAN|.	D|Q	308;97;42|74	ENSP00000358071:E308D;ENSP00000438773:E97D;ENSP00000396906:E42D|.	ENSP00000358071:E308D|ENSP00000416723:E74Q	E|E	+|+	3|1	2|0	SEC23IP|SEC23IP	121653602|121653602	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.879000|0.879000	0.50718|0.50718	3.161000|3.161000	0.50747|0.50747	0.737000|0.737000	0.32582|0.32582	-0.251000|-0.251000	0.11542|0.11542	GAG|GAG	SEC23IP	-	NULL	ENSG00000107651		0.483	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	79	0.00	0	G			121663612	121663612	+1	no_errors	ENST00000369075	ensembl	human	known	69_37n	missense	67	18.29	15	SNP	1.000	C
SLFN14	342618	genome.wustl.edu	37	17	33875444	33875444	+	Silent	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr17:33875444C>T	ENST00000415846.3	-	4	2588	c.2553G>A	c.(2551-2553)ccG>ccA	p.P851P		NM_001129820.1	NP_001123292.1	P0C7P3	SLN14_HUMAN	schlafen family member 14	851							ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(3)	9						CACCGGTGGCCGGGCTAAACA	0.498																																						dbGAP											0													80.0	68.0	72.0					17																	33875444		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS45650.1	17q12	2009-09-22				ENSG00000236320			32689	protein-coding gene	gene with protein product		614958				9846487	Standard	NM_001129820		Approved		uc010ctu.1	P0C7P3		ENST00000415846.3:c.2553G>A	17.37:g.33875444C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RTW9	Silent	SNP	pfam_ATPase_AAA-4	p.P851	ENST00000415846.3	37	c.2553	CCDS45650.1	17																																																																																			SLFN14	-	NULL	ENSG00000236320		0.498	SLFN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN14	HGNC	protein_coding	OTTHUMT00000448928.1	53	0.00	0	C	NM_001129820		33875444	33875444	-1	no_errors	ENST00000415846	ensembl	human	known	69_37n	silent	52	32.47	25	SNP	0.011	T
SMG1	23049	genome.wustl.edu	37	16	18839447	18839447	+	Nonsense_Mutation	SNP	G	G	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr16:18839447G>T	ENST00000446231.2	-	55	10059	c.9647C>A	c.(9646-9648)tCa>tAa	p.S3216*	SMG1_ENST00000389467.3_Nonsense_Mutation_p.S3217*			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3216					DNA repair (GO:0006281)|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)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGGTGTGACTGACATGGCTTG	0.408																																						dbGAP											0													76.0	80.0	79.0					16																	18839447		1947	4151	6098	-	-	-	SO:0001587	stop_gained	0			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9647C>A	16.37:g.18839447G>T	ENSP00000402515:p.Ser3216*	Somatic		WXS	Illumina GAIIx	Phase_IV	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Nonsense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.S3217*	ENST00000446231.2	37	c.9650	CCDS45430.1	16	.	.	.	.	.	.	.	.	.	.	G	53	20.246379	0.99928	.	.	ENSG00000157106	ENST00000446231;ENST00000389467	.	.	.	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.3129	0.98645	0.0:0.0:1.0:0.0	.	.	.	.	X	3216;3217	.	ENSP00000374118:S3217X	S	-	2	0	SMG1	18746948	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.256000	0.72473	2.800000	0.96347	0.650000	0.86243	TCA	SMG1	-	NULL	ENSG00000157106		0.408	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	89	0.00	0	G	NM_015092		18839447	18839447	-1	no_errors	ENST00000389467	ensembl	human	known	69_37n	nonsense	66	24.14	21	SNP	1.000	T
SORL1	6653	genome.wustl.edu	37	11	121393316	121393316	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr11:121393316C>T	ENST00000260197.7	+	10	1555	c.1426C>T	c.(1426-1428)Cat>Tat	p.H476Y	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	476					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTGTTCCCTTCATCTGGCTCA	0.562																																						dbGAP											0													185.0	164.0	171.0					11																	121393316		2203	4299	6502	-	-	-	SO:0001583	missense	0			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1426C>T	11.37:g.121393316C>T	ENSP00000260197:p.His476Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.H476Y	ENST00000260197.7	37	c.1426	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.339182	0.95783	.	.	ENSG00000137642	ENST00000260197	T	0.37235	1.21	5.48	5.48	0.80851	VPS10 (1);	0.116985	0.56097	D	0.000024	T	0.66366	0.2782	M	0.90870	3.155	0.80722	D	1	D	0.69078	0.997	P	0.59115	0.852	T	0.75311	-0.3362	10	0.87932	D	0	.	19.3435	0.94355	0.0:1.0:0.0:0.0	.	476	Q92673	SORL_HUMAN	Y	476	ENSP00000260197:H476Y	ENSP00000260197:H476Y	H	+	1	0	SORL1	120898526	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.473000	0.81007	2.569000	0.86673	0.591000	0.81541	CAT	SORL1	-	smart_VPS10	ENSG00000137642		0.562	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	78	0.00	0	C	NM_003105		121393316	121393316	+1	no_errors	ENST00000260197	ensembl	human	known	69_37n	missense	62	26.19	22	SNP	1.000	T
TREML3P	340206	genome.wustl.edu	37	6	41185458	41185458	+	RNA	SNP	A	A	C	rs9367097	byFrequency	TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr6:41185458A>C	ENST00000564680.1	-	0	227									triggering receptor expressed on myeloid cells-like 3, pseudogene																		TGTAGATTTCACACCAGTAGG	0.448													A|||	1320	0.263578	0.0348	0.2983	5008	,	,		22060	0.3829		0.337	False		,,,				2504	0.3497					dbGAP											0																																										-	-	-			0			AF534825		6p21.1	2012-04-20	2012-04-20	2012-04-20	ENSG00000184106	ENSG00000184106			30806	pseudogene	pseudogene	"""TREM like transcript 3"""	609716	"""triggering receptor expressed on myeloid cells-like 3"""	TREML3		12645956	Standard	NR_027256		Approved	TLT3	uc003oqb.3		OTTHUMG00000177313		6.37:g.41185458A>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000564680.1	37	NULL		6																																																																																			TREML3P	-	-	ENSG00000184106		0.448	TREML3P-002	KNOWN	basic	processed_transcript	TREML3P	HGNC	pseudogene	OTTHUMT00000436224.1	11	0.00	0	A			41185458	41185458	-1	no_errors	ENST00000564680	ensembl	human	known	69_37n	rna	10	33.33	5	SNP	0.001	C
VPRBP	9730	genome.wustl.edu	37	3	51458364	51458364	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr3:51458364T>C	ENST00000335891.5	-	7	722	c.713A>G	c.(712-714)aAt>aGt	p.N238S				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	687	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		ACACACACAATTGATGATAAT	0.428																																						dbGAP											0													161.0	154.0	156.0					3																	51458364		1908	4121	6029	-	-	-	SO:0001583	missense	0			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.713A>G	3.37:g.51458364T>C	ENSP00000338857:p.Asn238Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.N238S	ENST00000335891.5	37	c.713		3	.	.	.	.	.	.	.	.	.	.	T	18.90	3.722600	0.68959	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.65549	2.07;-0.16	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78304	0.4262	M	0.69823	2.125	0.58432	D	0.999999	D	0.56035	0.974	D	0.70487	0.969	T	0.80264	-0.1455	10	0.66056	D	0.02	-22.3936	16.1193	0.81336	0.0:0.0:0.0:1.0	.	687	Q9Y4B6	VPRBP_HUMAN	S	258;238	ENSP00000393183:N258S;ENSP00000338857:N238S	ENSP00000338857:N238S	N	-	2	0	VPRBP	51433404	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.474000	0.81024	2.201000	0.70794	0.533000	0.62120	AAT	VPRBP	-	superfamily_ARM-type_fold	ENSG00000145041		0.428	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		65	0.00	0	T	NM_014703		51458364	51458364	-1	no_errors	ENST00000335891	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	1.000	C
WEE1	7465	genome.wustl.edu	37	11	9608368	9608368	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr11:9608368G>T	ENST00000450114.2	+	10	2005	c.1752G>T	c.(1750-1752)ttG>ttT	p.L584F	WEE1_ENST00000299613.6_Missense_Mutation_p.L370F	NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	584					blood coagulation (GO:0007596)|establishment of cell polarity (GO:0030010)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neuron projection morphogenesis (GO:0048812)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAATAGAATTGAATGCCGAAA	0.343																																						dbGAP											0													46.0	48.0	47.0					11																	9608368		2201	4294	6495	-	-	-	SO:0001583	missense	0			X62048	CCDS7800.1, CCDS44536.1	11p15.4	2013-10-21	2013-10-21		ENSG00000166483	ENSG00000166483			12761	protein-coding gene	gene with protein product		193525	"""wee1+ (S. pombe) homolog"", ""WEE1 homolog (S. pombe)"""			1840647	Standard	NM_003390		Approved		uc001mhs.3	P30291	OTTHUMG00000165863	ENST00000450114.2:c.1752G>T	11.37:g.9608368G>T	ENSP00000402084:p.Leu584Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVE1|D3DQV0	Missense_Mutation	SNP	pfam_Prot_kinase_cat_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_Wee1-like_protein_kinase,pfscan_Prot_kinase_cat_dom	p.L584F	ENST00000450114.2	37	c.1752	CCDS7800.1	11	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584514	0.65992	.	.	ENSG00000166483	ENST00000450114;ENST00000299613;ENST00000530712;ENST00000527848	T;T;T;T	0.74209	0.32;0.28;1.52;-0.82	5.84	4.93	0.64822	Protein kinase-like domain (1);	0.157599	0.39210	N	0.001434	D	0.85243	0.5652	M	0.80982	2.52	0.48185	D	0.999606	D	0.89917	1.0	D	0.91635	0.999	D	0.86510	0.1809	10	0.72032	D	0.01	-11.3986	10.7231	0.46052	0.069:0.1303:0.8006:0.0	.	584	P30291	WEE1_HUMAN	F	584;370;190;36	ENSP00000402084:L584F;ENSP00000299613:L370F;ENSP00000434148:L190F;ENSP00000432284:L36F	ENSP00000299613:L370F	L	+	3	2	WEE1	9564944	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.469000	0.45110	1.469000	0.48083	0.591000	0.81541	TTG	WEE1	-	superfamily_Kinase-like_dom,pirsf_Wee1-like_protein_kinase	ENSG00000166483		0.343	WEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WEE1	HGNC	protein_coding	OTTHUMT00000386757.1	31	0.00	0	G	NM_003390		9608368	9608368	+1	no_errors	ENST00000450114	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	T
XPC	7508	genome.wustl.edu	37	3	14197851	14197851	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr3:14197851C>T	ENST00000285021.7	-	10	2231	c.2017G>A	c.(2017-2019)Gaa>Aaa	p.E673K	XPC_ENST00000449060.2_Missense_Mutation_p.E636K	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	673	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TAGACCGCTTCTCCACGACAA	0.547			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													dbGAP	yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""xeroderma pigmentosum, complementation group C"""		E	0													109.0	110.0	110.0					3																	14197851		1998	4175	6173	-	-	-	SO:0001583	missense	0	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.2017G>A	3.37:g.14197851C>T	ENSP00000285021:p.Glu673Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Missense_Mutation	SNP	pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	p.E673K	ENST00000285021.7	37	c.2017	CCDS46763.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.330164	0.95733	.	.	ENSG00000154767	ENST00000285021;ENST00000449060	T;T	0.64260	-0.09;-0.09	5.73	5.73	0.89815	DNA repair protein Rad4, DNA-binding domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.83751	0.5322	M	0.91510	3.215	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76575	0.978;0.988	D	0.86313	0.1687	10	0.59425	D	0.04	-29.5065	18.0825	0.89445	0.0:1.0:0.0:0.0	.	636;673	E9PH69;Q01831	.;XPC_HUMAN	K	673;636	ENSP00000285021:E673K;ENSP00000404002:E636K	ENSP00000285021:E673K	E	-	1	0	XPC	14172852	1.000000	0.71417	0.966000	0.40874	0.882000	0.50991	7.341000	0.79300	2.706000	0.92434	0.563000	0.77884	GAA	XPC	-	pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr	ENSG00000154767		0.547	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XPC	HGNC	protein_coding	OTTHUMT00000340517.3	59	0.00	0	C	NM_004628		14197851	14197851	-1	no_errors	ENST00000285021	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	T
ZBTB4	57659	genome.wustl.edu	37	17	7370012	7370012	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr17:7370012C>T	ENST00000311403.4	-	3	448	c.109G>A	c.(109-111)Gga>Aga	p.G37R	ZBTB4_ENST00000380599.4_Missense_Mutation_p.G37R	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	37	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		TTGGTGTCTCCGGCTATGAGG	0.642																																						dbGAP											0													52.0	41.0	45.0					17																	7370012		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.109G>A	17.37:g.7370012C>T	ENSP00000307858:p.Gly37Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G37R	ENST00000311403.4	37	c.109	CCDS11107.1	17	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922530	0.52653	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.73789	-0.78;-0.78	4.91	3.9	0.45041	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.089865	0.44097	D	0.000488	T	0.77438	0.4130	L	0.39085	1.19	0.38860	D	0.956468	D	0.76494	0.999	P	0.61477	0.889	T	0.80571	-0.1323	10	0.62326	D	0.03	-8.2197	13.301	0.60326	0.1597:0.8402:0.0:0.0	.	37	Q9P1Z0	ZBTB4_HUMAN	R	37	ENSP00000307858:G37R;ENSP00000369973:G37R	ENSP00000307858:G37R	G	-	1	0	ZBTB4	7310736	1.000000	0.71417	0.944000	0.38274	0.982000	0.71751	5.368000	0.66133	1.226000	0.43582	0.561000	0.74099	GGA	ZBTB4	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000174282		0.642	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB4	HGNC	protein_coding	OTTHUMT00000226940.2	52	0.00	0	C	NM_020899		7370012	7370012	-1	no_errors	ENST00000311403	ensembl	human	known	69_37n	missense	27	42.55	20	SNP	0.992	T
ZFP14	57677	genome.wustl.edu	37	19	36832278	36832278	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr19:36832278C>T	ENST00000270001.7	-	5	565	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	150					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)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGTAAGTGGTCATTTTTTCAG	0.378																																						dbGAP											0													149.0	142.0	144.0					19																	36832278		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.450G>A	19.37:g.36832278C>T	ENSP00000270001:p.Met150Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MD23	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M150I	ENST00000270001.7	37	c.450	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	c	0.673	-0.801171	0.02841	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.05925	3.37	4.3	-1.98	0.07480	.	0.738452	0.12215	N	0.488908	T	0.02727	0.0082	N	0.12887	0.27	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.42085	-0.9472	10	0.35671	T	0.21	.	1.7022	0.02875	0.1488:0.4578:0.1323:0.2611	.	150;150	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	I	150	ENSP00000270001:M150I	ENSP00000270001:M150I	M	-	3	0	ZFP14	41524118	0.000000	0.05858	0.018000	0.16275	0.873000	0.50193	-1.315000	0.02713	-0.145000	0.11294	0.549000	0.68633	ATG	ZFP14	-	NULL	ENSG00000142065		0.378	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	73	0.00	0	C	NM_020917		36832278	36832278	-1	no_errors	ENST00000270001	ensembl	human	known	69_37n	missense	52	27.78	20	SNP	0.009	T
ZMYM3	9203	genome.wustl.edu	37	X	70462884	70462884	+	Silent	SNP	G	G	A			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chrX:70462884G>A	ENST00000353904.2	-	22	3670	c.3483C>T	c.(3481-3483)taC>taT	p.Y1161Y	ZMYM3_ENST00000373998.1_Silent_p.Y1149Y|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Silent_p.Y1161Y|ZMYM3_ENST00000373988.1_Silent_p.Y1163Y|ZMYM3_ENST00000373984.3_Silent_p.Y1156Y	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1161					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAAAAGTCAGGTAGTAAAGGT	0.478																																						dbGAP											0													165.0	133.0	144.0					X																	70462884		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3483C>T	X.37:g.70462884G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DVV3|O15089|Q96E26	Silent	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.Y1163	ENST00000353904.2	37	c.3489	CCDS14409.1	X																																																																																			ZMYM3	-	NULL	ENSG00000147130		0.478	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	151	0.66	1	G	NM_201599		70462884	70462884	-1	no_errors	ENST00000373988	ensembl	human	known	69_37n	silent	119	18.37	27	SNP	1.000	A
ZNF733P	643955	genome.wustl.edu	37	7	62758740	62758740	+	RNA	SNP	C	C	T			TCGA-D8-A1XM-01A-21D-A14K-09	TCGA-D8-A1XM-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	07418962-0a82-43a2-a66f-614903ea8380	647a05dc-3959-4997-a775-7b6a2c4cba59	g.chr7:62758740C>T	ENST00000331425.6	-	0	137					NR_003952.1				zinc finger protein 733, pseudogene																		AGAGAGAATTCTATAGCTATG	0.438																																						dbGAP											0																																										-	-	-			0					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62758740C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-	ENSG00000185037		0.438	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	168	0.00	0	C			62758740	62758740	-1	no_errors	ENST00000331425	ensembl	human	known	69_37n	rna	132	16.98	27	SNP	0.380	T
